Caracter\u00edsticas fenot\u00edpicas t\u00edpicas de un s\u00edndrome cromos\u00f3mico espec\u00edfico (p.e. Down). <\/div><\/summary>\n![\"\"](\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/09\/image-38.png\")
<\/figure>\n<\/div><\/details>\n\n\n\nTalla baja, pubertad retrasada, amenorrea o genitales ambiguos (para descartar aneuploidias<\/a> y mosaicos de los cromosomas sexuales).<\/div><\/summary>\n![\"\"](\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/09\/imagen-72-1024x510.png\")
\n\n\t\t332710<\/span>\n\t\t{332710:AT3R5PNY}<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n <\/span>\n\t\t1<\/span>\n\t\tvancouver<\/span>\n\t\t50<\/span>\n\t\tdefault<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n <\/span>\n 2439<\/span>\n\t\thttps:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t\n\t\t\t\n\t\t\t\t%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3Afalse%2C%22meta%22%3A%7B%22request_last%22%3A0%2C%22request_next%22%3A0%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%22AT3R5PNY%22%2C%22library%22%3A%7B%22id%22%3A332710%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Bharath%20et%20al.%22%2C%22parsedDate%22%3A%222010%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BBharath%20R%2C%20Unnikrishnan%20AG%2C%20Thampy%20MV%2C%20Anilkumar%20A%2C%20Nisha%20B%2C%20Praveen%20VP%2C%20et%20al.%20Turner%20syndrome%20and%20its%20variants.%20Indian%20J%20Pediatr%20%5BInternet%5D.%202010%20%5Bcited%202022%20Sept%2024%5D%3B77%282%29%3A193%26%23x2013%3B5.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Flink.springer.com%5C%2F10.1007%5C%2Fs12098-009-0226-7%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Flink.springer.com%5C%2F10.1007%5C%2Fs12098-009-0226-7%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Turner%20syndrome%20and%20its%20variants%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22R.%22%2C%22lastName%22%3A%22Bharath%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22A.%20G.%22%2C%22lastName%22%3A%22Unnikrishnan%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%20V.%22%2C%22lastName%22%3A%22Thampy%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Alka%22%2C%22lastName%22%3A%22Anilkumar%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22B.%22%2C%22lastName%22%3A%22Nisha%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22V.%20P.%22%2C%22lastName%22%3A%22Praveen%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Vasantha%22%2C%22lastName%22%3A%22Nair%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22R.%20V.%22%2C%22lastName%22%3A%22Jayakumar%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Harish%22%2C%22lastName%22%3A%22Kumar%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222%5C%2F2010%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1007%5C%2Fs12098-009-0226-7%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Flink.springer.com%5C%2F10.1007%5C%2Fs12098-009-0226-7%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%220019-5456%2C%200973-7693%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%22AMP8AUIM%22%5D%2C%22dateModified%22%3A%222025-11-10T08%3A22%3A04Z%22%7D%7D%5D%7D<\/span>\n\n\t\t\t\t\n\n \n 1.<\/div>Bharath R, Unnikrishnan AG, Thampy MV, Anilkumar A, Nisha B, Praveen VP, et al. Turner syndrome and its variants. Indian J Pediatr [Internet]. 2010 [cited 2022 Sept 24];77(2):193\u20135. Available from: http:\/\/link.springer.com\/10.1007\/s12098-009-0226-7<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n\n<\/figcaption><\/figure>\n<\/div><\/details>\n\n\n\nMuerte fetal, muerte neonatal y aborto (para descartar aneuploidia<\/a>). <\/div><\/summary>\n![\"\"](\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/09\/image-37.png\")
<\/figure>\n<\/div><\/details>\n\n\n\nParejas con historia de infertilidad o aborto recurrente (para descartar traslocaciones balanceadas: reordenamientos cromos\u00f3micos rec\u00edprocos<\/a> o inversiones<\/a>). <\/div><\/summary>\nDe forma muy parecida a las translocaciones rec\u00edprocas, la mayor\u00eda de inversiones son heredadas y no se asocian a un fenotipo cl\u00ednico, pero los portadores est\u00e1n en riesgo incrementado de producir gametos anormales y problemas de fertilidad asociados, como consecuencia de eventos de cruzamiento en la meiosis en los que se vea involucrado el segmento invertido. <\/p>\n<\/div><\/details>\n\n\n\nHistoria familiar de anormalidades cromos\u00f3micas detectadas por m\u00e9todos citogen\u00e9ticos (variantes de heterocromatina, etc). <\/div><\/summary>\n![\"\"](\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/09\/imagen-67.png\")
\n\n\t\t332710<\/span>\n\t\t{332710:8MVW57D9}<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n <\/span>\n\t\t1<\/span>\n\t\tvancouver<\/span>\n\t\t50<\/span>\n\t\tdefault<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n <\/span>\n 2439<\/span>\n\t\thttps:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t\n\t\t\t\n\t\t\t\t%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3Afalse%2C%22meta%22%3A%7B%22request_last%22%3A0%2C%22request_next%22%3A0%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%228MVW57D9%22%2C%22library%22%3A%7B%22id%22%3A332710%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Liehr%22%2C%22parsedDate%22%3A%222016-01-22%22%2C%22numChildren%22%3A2%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BLiehr%20T.%20Cytogenetically%20visible%20copy%20number%20variations%20%28CG-CNVs%29%20in%20banding%20and%20molecular%20cytogenetics%20of%20human%3B%20about%20heteromorphisms%20and%20euchromatic%20variants.%20Mol%20Cytogenet%20%5BInternet%5D.%202016%20Jan%2022%20%5Bcited%202022%20Sept%2024%5D%3B9%3A5.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttps%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fpmc%5C%2Farticles%5C%2FPMC4724132%5C%2F%26%23039%3B%26gt%3Bhttps%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fpmc%5C%2Farticles%5C%2FPMC4724132%5C%2F%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Cytogenetically%20visible%20copy%20number%20variations%20%28CG-CNVs%29%20in%20banding%20and%20molecular%20cytogenetics%20of%20human%3B%20about%20heteromorphisms%20and%20euchromatic%20variants%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Thomas%22%2C%22lastName%22%3A%22Liehr%22%7D%5D%2C%22abstractNote%22%3A%22Background%5CnCopy%20number%20variations%20%28CNVs%29%20having%20no%20%28obvious%29%20clinical%20effects%20were%20rediscovered%20as%20major%20part%20of%20human%20genome%20in%202004.%20However%2C%20for%20every%20cytogeneticist%20microscopically%20visible%20harmless%20CNVs%20%28CG-CNVs%29%20are%20well%20known%20since%20decades.%20Harmless%20CG-CNVs%20can%20be%20present%20as%20heterochromatic%20or%20even%20as%20euchromatic%20variants%20in%20clinically%20healthy%20persons.%5Cn%5CnResults%5CnHere%20I%20provide%20a%20review%20on%20what%20is%20known%20today%20on%20the%20still%20too%20little%20studied%20harmless%20human%20CG-CNVs%2C%20point%20out%20which%20can%20be%20mixed%20up%20with%20clinically%20relevant%20pathological%20CG-CNVs%20and%20shortly%20discuss%20that%20the%20artificial%20separation%20of%20euchromatic%20submicroscopic%20CNVs%20%28MG-CNVs%29%20and%20euchromatic%20CG-CNVs%20is%20no%20longer%20timely.%5Cn%5CnConclusion%5CnOverall%2C%20neither%20so-called%20harmless%20heterochromatic%20nor%20so-called%20harmless%20euchromatic%20CG-CNVs%20are%20considered%20enough%20in%20evaluation%20of%20routine%20cytogenetic%20analysis%20and%20reporting.%20This%20holds%20especially%20true%20when%20bearing%20in%20mind%20the%20so-called%20two-hit%20model%20suggesting%20that%20combination%20of%20per%20se%20harmless%20CNVs%20may%20lead%20to%20clinical%20aberrations%20if%20they%20are%20present%20together%20in%20one%20patient.%22%2C%22date%22%3A%222016-1-22%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1186%5C%2Fs13039-016-0216-1%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fpmc%5C%2Farticles%5C%2FPMC4724132%5C%2F%22%2C%22PMID%22%3A%2226807150%22%2C%22PMCID%22%3A%22PMC4724132%22%2C%22ISSN%22%3A%221755-8166%22%2C%22language%22%3A%22%22%2C%22collections%22%3A%5B%22AMP8AUIM%22%5D%2C%22dateModified%22%3A%222025-11-10T01%3A13%3A24Z%22%7D%7D%5D%7D<\/span>\n\n\t\t\t\t\n\n \n 1.<\/div>Liehr T. Cytogenetically visible copy number variations (CG-CNVs) in banding and molecular cytogenetics of human; about heteromorphisms and euchromatic variants. Mol Cytogenet [Internet]. 2016 Jan 22 [cited 2022 Sept 24];9:5. Available from: https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4724132\/<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n\n<\/figcaption><\/figure>\n<\/div><\/details>\n\n\n\nCuando el aCGH detecta una trisom\u00eda de un cromosoma acroc\u00e9ntrico<\/a> (en particular, del 13 y el 21), esto puede ser el resulado de una trisom\u00eda libre (que en la mayor\u00eda de los casos es espor\u00e1dica) o una traslocaci\u00f3n robertsoniana<\/a> parental (asociada con un riesgo de recurrencia incrementado). \u00a0<\/div><\/summary>\n![\"\"](\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/09\/imagen-71.png\")
<\/figure>\n<\/div><\/details>\n\n\n\nCuando el aCGH detecta una delecci\u00f3n y una duplicaci\u00f3n en un mismo cromosoma. <\/div><\/summary>\nPuede ser indicativo de una inversi\u00f3n peric\u00e9ntrica parental, por lo que habr\u00e1 que realizar un cariotipo a los progenitores. <\/p>\n<\/div><\/details>\n\n\n\nCuando sospechemos alteraciones estructurales cromos\u00f3micas sin alteraci\u00f3n del n\u00famero de copias. <\/div><\/summary>\n\n- Inversiones.<\/a><\/li>\n\n\n\n
- Cromosomas en anillo.<\/a> <\/li>\n\n\n\n
- Cromosomas isodic\u00e9ntricos (idic15). <\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n
Microcefalia y talla baja severa, o bien reordenamientos cromos\u00f3micos complejos, para descartar aneuploidia variegata en mosaico, s\u00edndrome de Nijmejen.<\/div><\/summary>\n![\"\"](\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/09\/imagen-68.png\")
Metafase 18<\/figcaption><\/figure>\n\n\n\n![\"\"](\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/09\/imagen-69.png\")
Metafase 30<\/figcaption><\/figure>\n\n\n\n![\"\"](\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/09\/imagen-70.png\")
Metafase 23<\/figcaption><\/figure>\n<\/div><\/details>\n<\/div>\n","protected":false},"excerpt":{"rendered":"Indicaciones en las que el cariotipo sigue siendo superior a las t\u00e9cnicas de diagn\u00f3stico molecular:<\/p>","protected":false},"author":1,"featured_media":2452,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[10],"tags":[],"class_list":["post-2439","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-neurogenetica","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2439","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=2439"}],"version-history":[{"count":3,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2439\/revisions"}],"predecessor-version":[{"id":7071,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2439\/revisions\/7071"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/2452"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=2439"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=2439"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=2439"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
<\/figure>\n<\/div><\/details>\n\n\n\nTalla baja, pubertad retrasada, amenorrea o genitales ambiguos (para descartar aneuploidias<\/a> y mosaicos de los cromosomas sexuales).<\/div><\/summary>\n\n\n\t\t332710<\/span>\n\t\t{332710:AT3R5PNY}<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n <\/span>\n\t\t1<\/span>\n\t\tvancouver<\/span>\n\t\t50<\/span>\n\t\tdefault<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n <\/span>\n 2439<\/span>\n\t\thttps:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t\n\t\t\t\n\t\t\t\t%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3Afalse%2C%22meta%22%3A%7B%22request_last%22%3A0%2C%22request_next%22%3A0%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%22AT3R5PNY%22%2C%22library%22%3A%7B%22id%22%3A332710%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Bharath%20et%20al.%22%2C%22parsedDate%22%3A%222010%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BBharath%20R%2C%20Unnikrishnan%20AG%2C%20Thampy%20MV%2C%20Anilkumar%20A%2C%20Nisha%20B%2C%20Praveen%20VP%2C%20et%20al.%20Turner%20syndrome%20and%20its%20variants.%20Indian%20J%20Pediatr%20%5BInternet%5D.%202010%20%5Bcited%202022%20Sept%2024%5D%3B77%282%29%3A193%26%23x2013%3B5.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Flink.springer.com%5C%2F10.1007%5C%2Fs12098-009-0226-7%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Flink.springer.com%5C%2F10.1007%5C%2Fs12098-009-0226-7%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Turner%20syndrome%20and%20its%20variants%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22R.%22%2C%22lastName%22%3A%22Bharath%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22A.%20G.%22%2C%22lastName%22%3A%22Unnikrishnan%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%20V.%22%2C%22lastName%22%3A%22Thampy%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Alka%22%2C%22lastName%22%3A%22Anilkumar%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22B.%22%2C%22lastName%22%3A%22Nisha%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22V.%20P.%22%2C%22lastName%22%3A%22Praveen%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Vasantha%22%2C%22lastName%22%3A%22Nair%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22R.%20V.%22%2C%22lastName%22%3A%22Jayakumar%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Harish%22%2C%22lastName%22%3A%22Kumar%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222%5C%2F2010%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1007%5C%2Fs12098-009-0226-7%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Flink.springer.com%5C%2F10.1007%5C%2Fs12098-009-0226-7%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%220019-5456%2C%200973-7693%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%22AMP8AUIM%22%5D%2C%22dateModified%22%3A%222025-11-10T08%3A22%3A04Z%22%7D%7D%5D%7D<\/span>\n\n\t\t\t\t\n\n \n 1.<\/div>Bharath R, Unnikrishnan AG, Thampy MV, Anilkumar A, Nisha B, Praveen VP, et al. Turner syndrome and its variants. Indian J Pediatr [Internet]. 2010 [cited 2022 Sept 24];77(2):193\u20135. Available from: http:\/\/link.springer.com\/10.1007\/s12098-009-0226-7<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n\n<\/figcaption><\/figure>\n<\/div><\/details>\n\n\n\nMuerte fetal, muerte neonatal y aborto (para descartar aneuploidia<\/a>). <\/div><\/summary>\n<\/figure>\n<\/div><\/details>\n\n\n\nParejas con historia de infertilidad o aborto recurrente (para descartar traslocaciones balanceadas: reordenamientos cromos\u00f3micos rec\u00edprocos<\/a> o inversiones<\/a>). <\/div><\/summary>\nDe forma muy parecida a las translocaciones rec\u00edprocas, la mayor\u00eda de inversiones son heredadas y no se asocian a un fenotipo cl\u00ednico, pero los portadores est\u00e1n en riesgo incrementado de producir gametos anormales y problemas de fertilidad asociados, como consecuencia de eventos de cruzamiento en la meiosis en los que se vea involucrado el segmento invertido. <\/p>\n<\/div><\/details>\n\n\n\nHistoria familiar de anormalidades cromos\u00f3micas detectadas por m\u00e9todos citogen\u00e9ticos (variantes de heterocromatina, etc). <\/div><\/summary>\n\n\n\t\t332710<\/span>\n\t\t{332710:8MVW57D9}<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n <\/span>\n\t\t1<\/span>\n\t\tvancouver<\/span>\n\t\t50<\/span>\n\t\tdefault<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n <\/span>\n 2439<\/span>\n\t\thttps:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t\n\t\t\t\n\t\t\t\t%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3Afalse%2C%22meta%22%3A%7B%22request_last%22%3A0%2C%22request_next%22%3A0%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%228MVW57D9%22%2C%22library%22%3A%7B%22id%22%3A332710%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Liehr%22%2C%22parsedDate%22%3A%222016-01-22%22%2C%22numChildren%22%3A2%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BLiehr%20T.%20Cytogenetically%20visible%20copy%20number%20variations%20%28CG-CNVs%29%20in%20banding%20and%20molecular%20cytogenetics%20of%20human%3B%20about%20heteromorphisms%20and%20euchromatic%20variants.%20Mol%20Cytogenet%20%5BInternet%5D.%202016%20Jan%2022%20%5Bcited%202022%20Sept%2024%5D%3B9%3A5.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttps%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fpmc%5C%2Farticles%5C%2FPMC4724132%5C%2F%26%23039%3B%26gt%3Bhttps%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fpmc%5C%2Farticles%5C%2FPMC4724132%5C%2F%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Cytogenetically%20visible%20copy%20number%20variations%20%28CG-CNVs%29%20in%20banding%20and%20molecular%20cytogenetics%20of%20human%3B%20about%20heteromorphisms%20and%20euchromatic%20variants%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Thomas%22%2C%22lastName%22%3A%22Liehr%22%7D%5D%2C%22abstractNote%22%3A%22Background%5CnCopy%20number%20variations%20%28CNVs%29%20having%20no%20%28obvious%29%20clinical%20effects%20were%20rediscovered%20as%20major%20part%20of%20human%20genome%20in%202004.%20However%2C%20for%20every%20cytogeneticist%20microscopically%20visible%20harmless%20CNVs%20%28CG-CNVs%29%20are%20well%20known%20since%20decades.%20Harmless%20CG-CNVs%20can%20be%20present%20as%20heterochromatic%20or%20even%20as%20euchromatic%20variants%20in%20clinically%20healthy%20persons.%5Cn%5CnResults%5CnHere%20I%20provide%20a%20review%20on%20what%20is%20known%20today%20on%20the%20still%20too%20little%20studied%20harmless%20human%20CG-CNVs%2C%20point%20out%20which%20can%20be%20mixed%20up%20with%20clinically%20relevant%20pathological%20CG-CNVs%20and%20shortly%20discuss%20that%20the%20artificial%20separation%20of%20euchromatic%20submicroscopic%20CNVs%20%28MG-CNVs%29%20and%20euchromatic%20CG-CNVs%20is%20no%20longer%20timely.%5Cn%5CnConclusion%5CnOverall%2C%20neither%20so-called%20harmless%20heterochromatic%20nor%20so-called%20harmless%20euchromatic%20CG-CNVs%20are%20considered%20enough%20in%20evaluation%20of%20routine%20cytogenetic%20analysis%20and%20reporting.%20This%20holds%20especially%20true%20when%20bearing%20in%20mind%20the%20so-called%20two-hit%20model%20suggesting%20that%20combination%20of%20per%20se%20harmless%20CNVs%20may%20lead%20to%20clinical%20aberrations%20if%20they%20are%20present%20together%20in%20one%20patient.%22%2C%22date%22%3A%222016-1-22%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1186%5C%2Fs13039-016-0216-1%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fpmc%5C%2Farticles%5C%2FPMC4724132%5C%2F%22%2C%22PMID%22%3A%2226807150%22%2C%22PMCID%22%3A%22PMC4724132%22%2C%22ISSN%22%3A%221755-8166%22%2C%22language%22%3A%22%22%2C%22collections%22%3A%5B%22AMP8AUIM%22%5D%2C%22dateModified%22%3A%222025-11-10T01%3A13%3A24Z%22%7D%7D%5D%7D<\/span>\n\n\t\t\t\t\n\n \n 1.<\/div>Liehr T. Cytogenetically visible copy number variations (CG-CNVs) in banding and molecular cytogenetics of human; about heteromorphisms and euchromatic variants. Mol Cytogenet [Internet]. 2016 Jan 22 [cited 2022 Sept 24];9:5. Available from: https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4724132\/<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n\n<\/figcaption><\/figure>\n<\/div><\/details>\n\n\n\nCuando el aCGH detecta una trisom\u00eda de un cromosoma acroc\u00e9ntrico<\/a> (en particular, del 13 y el 21), esto puede ser el resulado de una trisom\u00eda libre (que en la mayor\u00eda de los casos es espor\u00e1dica) o una traslocaci\u00f3n robertsoniana<\/a> parental (asociada con un riesgo de recurrencia incrementado). \u00a0<\/div><\/summary>\n<\/figure>\n<\/div><\/details>\n\n\n\nCuando el aCGH detecta una delecci\u00f3n y una duplicaci\u00f3n en un mismo cromosoma. <\/div><\/summary>\nPuede ser indicativo de una inversi\u00f3n peric\u00e9ntrica parental, por lo que habr\u00e1 que realizar un cariotipo a los progenitores. <\/p>\n<\/div><\/details>\n\n\n\nCuando sospechemos alteraciones estructurales cromos\u00f3micas sin alteraci\u00f3n del n\u00famero de copias. <\/div><\/summary>\n\n- Inversiones.<\/a><\/li>\n\n\n\n
- Cromosomas en anillo.<\/a> <\/li>\n\n\n\n
- Cromosomas isodic\u00e9ntricos (idic15). <\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n
Microcefalia y talla baja severa, o bien reordenamientos cromos\u00f3micos complejos, para descartar aneuploidia variegata en mosaico, s\u00edndrome de Nijmejen.<\/div><\/summary>\nMetafase 18<\/figcaption><\/figure>\n\n\n\nMetafase 30<\/figcaption><\/figure>\n\n\n\nMetafase 23<\/figcaption><\/figure>\n<\/div><\/details>\n<\/div>\n","protected":false},"excerpt":{"rendered":"Indicaciones en las que el cariotipo sigue siendo superior a las t\u00e9cnicas de diagn\u00f3stico molecular:<\/p>","protected":false},"author":1,"featured_media":2452,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[10],"tags":[],"class_list":["post-2439","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-neurogenetica","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2439","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=2439"}],"version-history":[{"count":3,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2439\/revisions"}],"predecessor-version":[{"id":7071,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2439\/revisions\/7071"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/2452"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=2439"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=2439"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=2439"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
Muerte fetal, muerte neonatal y aborto (para descartar aneuploidia<\/a>). <\/div><\/summary>\n<\/figure>\n<\/div><\/details>\n\n\n\nParejas con historia de infertilidad o aborto recurrente (para descartar traslocaciones balanceadas: reordenamientos cromos\u00f3micos rec\u00edprocos<\/a> o inversiones<\/a>). <\/div><\/summary>\nDe forma muy parecida a las translocaciones rec\u00edprocas, la mayor\u00eda de inversiones son heredadas y no se asocian a un fenotipo cl\u00ednico, pero los portadores est\u00e1n en riesgo incrementado de producir gametos anormales y problemas de fertilidad asociados, como consecuencia de eventos de cruzamiento en la meiosis en los que se vea involucrado el segmento invertido. <\/p>\n<\/div><\/details>\n\n\n\nHistoria familiar de anormalidades cromos\u00f3micas detectadas por m\u00e9todos citogen\u00e9ticos (variantes de heterocromatina, etc). <\/div><\/summary>\n\n\n\t\t332710<\/span>\n\t\t{332710:8MVW57D9}<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n <\/span>\n\t\t1<\/span>\n\t\tvancouver<\/span>\n\t\t50<\/span>\n\t\tdefault<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n <\/span>\n 2439<\/span>\n\t\thttps:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t\n\t\t\t\n\t\t\t\t%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3Afalse%2C%22meta%22%3A%7B%22request_last%22%3A0%2C%22request_next%22%3A0%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%228MVW57D9%22%2C%22library%22%3A%7B%22id%22%3A332710%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Liehr%22%2C%22parsedDate%22%3A%222016-01-22%22%2C%22numChildren%22%3A2%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BLiehr%20T.%20Cytogenetically%20visible%20copy%20number%20variations%20%28CG-CNVs%29%20in%20banding%20and%20molecular%20cytogenetics%20of%20human%3B%20about%20heteromorphisms%20and%20euchromatic%20variants.%20Mol%20Cytogenet%20%5BInternet%5D.%202016%20Jan%2022%20%5Bcited%202022%20Sept%2024%5D%3B9%3A5.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttps%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fpmc%5C%2Farticles%5C%2FPMC4724132%5C%2F%26%23039%3B%26gt%3Bhttps%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fpmc%5C%2Farticles%5C%2FPMC4724132%5C%2F%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Cytogenetically%20visible%20copy%20number%20variations%20%28CG-CNVs%29%20in%20banding%20and%20molecular%20cytogenetics%20of%20human%3B%20about%20heteromorphisms%20and%20euchromatic%20variants%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Thomas%22%2C%22lastName%22%3A%22Liehr%22%7D%5D%2C%22abstractNote%22%3A%22Background%5CnCopy%20number%20variations%20%28CNVs%29%20having%20no%20%28obvious%29%20clinical%20effects%20were%20rediscovered%20as%20major%20part%20of%20human%20genome%20in%202004.%20However%2C%20for%20every%20cytogeneticist%20microscopically%20visible%20harmless%20CNVs%20%28CG-CNVs%29%20are%20well%20known%20since%20decades.%20Harmless%20CG-CNVs%20can%20be%20present%20as%20heterochromatic%20or%20even%20as%20euchromatic%20variants%20in%20clinically%20healthy%20persons.%5Cn%5CnResults%5CnHere%20I%20provide%20a%20review%20on%20what%20is%20known%20today%20on%20the%20still%20too%20little%20studied%20harmless%20human%20CG-CNVs%2C%20point%20out%20which%20can%20be%20mixed%20up%20with%20clinically%20relevant%20pathological%20CG-CNVs%20and%20shortly%20discuss%20that%20the%20artificial%20separation%20of%20euchromatic%20submicroscopic%20CNVs%20%28MG-CNVs%29%20and%20euchromatic%20CG-CNVs%20is%20no%20longer%20timely.%5Cn%5CnConclusion%5CnOverall%2C%20neither%20so-called%20harmless%20heterochromatic%20nor%20so-called%20harmless%20euchromatic%20CG-CNVs%20are%20considered%20enough%20in%20evaluation%20of%20routine%20cytogenetic%20analysis%20and%20reporting.%20This%20holds%20especially%20true%20when%20bearing%20in%20mind%20the%20so-called%20two-hit%20model%20suggesting%20that%20combination%20of%20per%20se%20harmless%20CNVs%20may%20lead%20to%20clinical%20aberrations%20if%20they%20are%20present%20together%20in%20one%20patient.%22%2C%22date%22%3A%222016-1-22%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1186%5C%2Fs13039-016-0216-1%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fpmc%5C%2Farticles%5C%2FPMC4724132%5C%2F%22%2C%22PMID%22%3A%2226807150%22%2C%22PMCID%22%3A%22PMC4724132%22%2C%22ISSN%22%3A%221755-8166%22%2C%22language%22%3A%22%22%2C%22collections%22%3A%5B%22AMP8AUIM%22%5D%2C%22dateModified%22%3A%222025-11-10T01%3A13%3A24Z%22%7D%7D%5D%7D<\/span>\n\n\t\t\t\t\n\n \n 1.<\/div>Liehr T. Cytogenetically visible copy number variations (CG-CNVs) in banding and molecular cytogenetics of human; about heteromorphisms and euchromatic variants. Mol Cytogenet [Internet]. 2016 Jan 22 [cited 2022 Sept 24];9:5. Available from: https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4724132\/<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n\n<\/figcaption><\/figure>\n<\/div><\/details>\n\n\n\nCuando el aCGH detecta una trisom\u00eda de un cromosoma acroc\u00e9ntrico<\/a> (en particular, del 13 y el 21), esto puede ser el resulado de una trisom\u00eda libre (que en la mayor\u00eda de los casos es espor\u00e1dica) o una traslocaci\u00f3n robertsoniana<\/a> parental (asociada con un riesgo de recurrencia incrementado). \u00a0<\/div><\/summary>\n<\/figure>\n<\/div><\/details>\n\n\n\nCuando el aCGH detecta una delecci\u00f3n y una duplicaci\u00f3n en un mismo cromosoma. <\/div><\/summary>\nPuede ser indicativo de una inversi\u00f3n peric\u00e9ntrica parental, por lo que habr\u00e1 que realizar un cariotipo a los progenitores. <\/p>\n<\/div><\/details>\n\n\n\nCuando sospechemos alteraciones estructurales cromos\u00f3micas sin alteraci\u00f3n del n\u00famero de copias. <\/div><\/summary>\n\n- Inversiones.<\/a><\/li>\n\n\n\n
- Cromosomas en anillo.<\/a> <\/li>\n\n\n\n
- Cromosomas isodic\u00e9ntricos (idic15). <\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n
Microcefalia y talla baja severa, o bien reordenamientos cromos\u00f3micos complejos, para descartar aneuploidia variegata en mosaico, s\u00edndrome de Nijmejen.<\/div><\/summary>\nMetafase 18<\/figcaption><\/figure>\n\n\n\nMetafase 30<\/figcaption><\/figure>\n\n\n\nMetafase 23<\/figcaption><\/figure>\n<\/div><\/details>\n<\/div>\n","protected":false},"excerpt":{"rendered":"Indicaciones en las que el cariotipo sigue siendo superior a las t\u00e9cnicas de diagn\u00f3stico molecular:<\/p>","protected":false},"author":1,"featured_media":2452,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[10],"tags":[],"class_list":["post-2439","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-neurogenetica","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2439","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=2439"}],"version-history":[{"count":3,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2439\/revisions"}],"predecessor-version":[{"id":7071,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2439\/revisions\/7071"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/2452"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=2439"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=2439"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=2439"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
<\/figure>\n<\/div><\/details>\n\n\n\nParejas con historia de infertilidad o aborto recurrente (para descartar traslocaciones balanceadas: reordenamientos cromos\u00f3micos rec\u00edprocos<\/a> o inversiones<\/a>). <\/div><\/summary>\nDe forma muy parecida a las translocaciones rec\u00edprocas, la mayor\u00eda de inversiones son heredadas y no se asocian a un fenotipo cl\u00ednico, pero los portadores est\u00e1n en riesgo incrementado de producir gametos anormales y problemas de fertilidad asociados, como consecuencia de eventos de cruzamiento en la meiosis en los que se vea involucrado el segmento invertido. <\/p>\n<\/div><\/details>\n\n\n\nHistoria familiar de anormalidades cromos\u00f3micas detectadas por m\u00e9todos citogen\u00e9ticos (variantes de heterocromatina, etc). <\/div><\/summary>\n\n\n\t\t332710<\/span>\n\t\t{332710:8MVW57D9}<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n <\/span>\n\t\t1<\/span>\n\t\tvancouver<\/span>\n\t\t50<\/span>\n\t\tdefault<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n <\/span>\n 2439<\/span>\n\t\thttps:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t\n\t\t\t\n\t\t\t\t%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3Afalse%2C%22meta%22%3A%7B%22request_last%22%3A0%2C%22request_next%22%3A0%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%228MVW57D9%22%2C%22library%22%3A%7B%22id%22%3A332710%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Liehr%22%2C%22parsedDate%22%3A%222016-01-22%22%2C%22numChildren%22%3A2%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BLiehr%20T.%20Cytogenetically%20visible%20copy%20number%20variations%20%28CG-CNVs%29%20in%20banding%20and%20molecular%20cytogenetics%20of%20human%3B%20about%20heteromorphisms%20and%20euchromatic%20variants.%20Mol%20Cytogenet%20%5BInternet%5D.%202016%20Jan%2022%20%5Bcited%202022%20Sept%2024%5D%3B9%3A5.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttps%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fpmc%5C%2Farticles%5C%2FPMC4724132%5C%2F%26%23039%3B%26gt%3Bhttps%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fpmc%5C%2Farticles%5C%2FPMC4724132%5C%2F%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Cytogenetically%20visible%20copy%20number%20variations%20%28CG-CNVs%29%20in%20banding%20and%20molecular%20cytogenetics%20of%20human%3B%20about%20heteromorphisms%20and%20euchromatic%20variants%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Thomas%22%2C%22lastName%22%3A%22Liehr%22%7D%5D%2C%22abstractNote%22%3A%22Background%5CnCopy%20number%20variations%20%28CNVs%29%20having%20no%20%28obvious%29%20clinical%20effects%20were%20rediscovered%20as%20major%20part%20of%20human%20genome%20in%202004.%20However%2C%20for%20every%20cytogeneticist%20microscopically%20visible%20harmless%20CNVs%20%28CG-CNVs%29%20are%20well%20known%20since%20decades.%20Harmless%20CG-CNVs%20can%20be%20present%20as%20heterochromatic%20or%20even%20as%20euchromatic%20variants%20in%20clinically%20healthy%20persons.%5Cn%5CnResults%5CnHere%20I%20provide%20a%20review%20on%20what%20is%20known%20today%20on%20the%20still%20too%20little%20studied%20harmless%20human%20CG-CNVs%2C%20point%20out%20which%20can%20be%20mixed%20up%20with%20clinically%20relevant%20pathological%20CG-CNVs%20and%20shortly%20discuss%20that%20the%20artificial%20separation%20of%20euchromatic%20submicroscopic%20CNVs%20%28MG-CNVs%29%20and%20euchromatic%20CG-CNVs%20is%20no%20longer%20timely.%5Cn%5CnConclusion%5CnOverall%2C%20neither%20so-called%20harmless%20heterochromatic%20nor%20so-called%20harmless%20euchromatic%20CG-CNVs%20are%20considered%20enough%20in%20evaluation%20of%20routine%20cytogenetic%20analysis%20and%20reporting.%20This%20holds%20especially%20true%20when%20bearing%20in%20mind%20the%20so-called%20two-hit%20model%20suggesting%20that%20combination%20of%20per%20se%20harmless%20CNVs%20may%20lead%20to%20clinical%20aberrations%20if%20they%20are%20present%20together%20in%20one%20patient.%22%2C%22date%22%3A%222016-1-22%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1186%5C%2Fs13039-016-0216-1%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fpmc%5C%2Farticles%5C%2FPMC4724132%5C%2F%22%2C%22PMID%22%3A%2226807150%22%2C%22PMCID%22%3A%22PMC4724132%22%2C%22ISSN%22%3A%221755-8166%22%2C%22language%22%3A%22%22%2C%22collections%22%3A%5B%22AMP8AUIM%22%5D%2C%22dateModified%22%3A%222025-11-10T01%3A13%3A24Z%22%7D%7D%5D%7D<\/span>\n\n\t\t\t\t\n\n \n 1.<\/div>Liehr T. Cytogenetically visible copy number variations (CG-CNVs) in banding and molecular cytogenetics of human; about heteromorphisms and euchromatic variants. Mol Cytogenet [Internet]. 2016 Jan 22 [cited 2022 Sept 24];9:5. Available from: https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4724132\/<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n\n<\/figcaption><\/figure>\n<\/div><\/details>\n\n\n\nCuando el aCGH detecta una trisom\u00eda de un cromosoma acroc\u00e9ntrico<\/a> (en particular, del 13 y el 21), esto puede ser el resulado de una trisom\u00eda libre (que en la mayor\u00eda de los casos es espor\u00e1dica) o una traslocaci\u00f3n robertsoniana<\/a> parental (asociada con un riesgo de recurrencia incrementado). \u00a0<\/div><\/summary>\n<\/figure>\n<\/div><\/details>\n\n\n\nCuando el aCGH detecta una delecci\u00f3n y una duplicaci\u00f3n en un mismo cromosoma. <\/div><\/summary>\nPuede ser indicativo de una inversi\u00f3n peric\u00e9ntrica parental, por lo que habr\u00e1 que realizar un cariotipo a los progenitores. <\/p>\n<\/div><\/details>\n\n\n\nCuando sospechemos alteraciones estructurales cromos\u00f3micas sin alteraci\u00f3n del n\u00famero de copias. <\/div><\/summary>\n\n- Inversiones.<\/a><\/li>\n\n\n\n
- Cromosomas en anillo.<\/a> <\/li>\n\n\n\n
- Cromosomas isodic\u00e9ntricos (idic15). <\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n
Microcefalia y talla baja severa, o bien reordenamientos cromos\u00f3micos complejos, para descartar aneuploidia variegata en mosaico, s\u00edndrome de Nijmejen.<\/div><\/summary>\nMetafase 18<\/figcaption><\/figure>\n\n\n\nMetafase 30<\/figcaption><\/figure>\n\n\n\nMetafase 23<\/figcaption><\/figure>\n<\/div><\/details>\n<\/div>\n","protected":false},"excerpt":{"rendered":"Indicaciones en las que el cariotipo sigue siendo superior a las t\u00e9cnicas de diagn\u00f3stico molecular:<\/p>","protected":false},"author":1,"featured_media":2452,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[10],"tags":[],"class_list":["post-2439","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-neurogenetica","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2439","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=2439"}],"version-history":[{"count":3,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2439\/revisions"}],"predecessor-version":[{"id":7071,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2439\/revisions\/7071"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/2452"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=2439"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=2439"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=2439"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
De forma muy parecida a las translocaciones rec\u00edprocas, la mayor\u00eda de inversiones son heredadas y no se asocian a un fenotipo cl\u00ednico, pero los portadores est\u00e1n en riesgo incrementado de producir gametos anormales y problemas de fertilidad asociados, como consecuencia de eventos de cruzamiento en la meiosis en los que se vea involucrado el segmento invertido. <\/p>\n<\/div><\/details>\n\n\n\n Puede ser indicativo de una inversi\u00f3n peric\u00e9ntrica parental, por lo que habr\u00e1 que realizar un cariotipo a los progenitores. <\/p>\n<\/div><\/details>\n\n\n\n Indicaciones en las que el cariotipo sigue siendo superior a las t\u00e9cnicas de diagn\u00f3stico molecular:<\/p>","protected":false},"author":1,"featured_media":2452,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[10],"tags":[],"class_list":["post-2439","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-neurogenetica","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2439","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=2439"}],"version-history":[{"count":3,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2439\/revisions"}],"predecessor-version":[{"id":7071,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2439\/revisions\/7071"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/2452"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=2439"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=2439"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=2439"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}<\/figure>\n<\/div><\/details>\n\n\n\n\n