Indications in which the karyotype remains superior to molecular diagnostic techniques:
Typical phenotypic features of a specific chromosomal syndrome (e.g. Down).
Short stature, delayed puberty, amenorrhea, or ambiguous genitalia (to rule out aneuploidies and sex chromosome mosaics).
19955111
{19955111:V7UJRCIS}
1
vancouver
50
default
2439
https://neuropediatoolkit.org/wp-content/plugins/zotpress/
%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%22V7UJRCIS%22%2C%22library%22%3A%7B%22id%22%3A19955111%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%224NWEHI5R%22%5D%2C%22dateModified%22%3A%222026-07-15T22%3A37%3A41Z%22%7D%7D%5D%7D
1.
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):193–5. Available from: http://link.springer.com/10.1007/s12098-009-0226-7
Fetal death, neonatal death, and miscarriage (to rule out aneuploidy).
Couples with a history of infertility or recurrent miscarriage (to rule out balanced translocations: reciprocal chromosomal rearrangements o inversions).
Much like reciprocal translocations, most inversions are inherited and are not associated with a clinical phenotype, but carriers are at increased risk of producing abnormal gametes and associated fertility problems as a consequence of crossing over events in meiosis involving the inverted segment.
Family history of chromosomal abnormalities detected by cytogenetic methods (heterochromatin variants, etc.).
19955111
{19955111:H8KSIL54}
1
vancouver
50
default
2439
https://neuropediatoolkit.org/wp-content/plugins/zotpress/
%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%22H8KSIL54%22%2C%22library%22%3A%7B%22id%22%3A19955111%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%224NWEHI5R%22%5D%2C%22dateModified%22%3A%222026-05-09T06%3A11%3A10Z%22%7D%7D%5D%7D
1.
Liehr T. Cytogenetically visible copy number variations (CG-CNVs) in banding and molecular cytogenetics of humans; 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/
When aCGH detects a trisomy of an acrocentric chromosome (particularly of 13 and 21), this may be the result of a free trisomy (which in most cases is sporadic) or a Robertsonian translocation parental (associated with an increased risk of recurrence).
When aCGH detects a deletion and a duplication in the same chromosome.
It may be indicative of a parental pericentric inversion, so a karyotype will have to be performed on the parents.
When we suspect chromosomal structural alterations without copy number alteration.
- Investments.
- Chromosomes in the ring.
- Isodicentric chromosomes (idic15).
Microcephaly and severe short stature, or complex chromosomal rearrangements, to rule out mosaic variegate aneuploidy, Nijmejen syndrome.
