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/
statussuccessupdateneededfalseinstancefalsemetarequest_last0request_next0used_cachetruedatakeyV7UJRCISlibraryid19955111metacreatorSummaryBharathetal.parsedDate2010numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtBharathRUnnikrishnanAGThampyMVAnilkumarANishaBPraveenVPetal.Turnersyndromeanditsvariants.IndianJPediatrInternet.2010cited2022Sept24772193x20135.Availablefromltaclass039zp-ItemURL039href039httplink.springer.com10.1007s12098-009-0226-7039gthttplink.springer.com10.1007s12098-009-0226-7ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleTurnersyndromeanditsvariantscreatorscreatorTypeauthorfirstNameR.lastNameBharathcreatorTypeauthorfirstNameA.G.lastNameUnnikrishnancreatorTypeauthorfirstNameM.V.lastNameThampycreatorTypeauthorfirstNameAlkalastNameAnilkumarcreatorTypeauthorfirstNameB.lastNameNishacreatorTypeauthorfirstNameV.P.lastNamePraveencreatorTypeauthorfirstNameVasanthalastNameNaircreatorTypeauthorfirstNameR.V.lastNameJayakumarcreatorTypeauthorfirstNameHarishlastNameKumarabstractNotedate22010sectionpartNumberpartTitleDOI10.1007s12098-009-0226-7citationKeyurlhttplink.springer.com10.1007s12098-009-0226-7PMIDPMCIDISSN0019-54560973-7693languageencollections4NWEHI5RdateModified2026-07-15T223741Z
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/
statussuccessupdateneededfalseinstancefalsemetarequest_last0request_next0used_cachetruedatakeyH8KSIL54libraryid19955111metacreatorSummaryLiehrparsedDate2016-01-22numChildren2bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtLiehrT.CytogeneticallyvisiblecopynumbervariationsCG-CNVsinbandingandmolecularcytogeneticsofhumanaboutheteromorphismsandeuchromaticvariants.MolCytogenetInternet.2016Jan22cited2022Sept2495.Availablefromltaclass039zp-ItemURL039href039httpswww.ncbi.nlm.nih.govpmcarticlesPMC4724132039gthttpswww.ncbi.nlm.nih.govpmcarticlesPMC4724132ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleCytogeneticallyvisiblecopynumbervariationsCG-CNVsinbandingandmolecularcytogeneticsofhumanaboutheteromorphismsandeuchromaticvariantscreatorscreatorTypeauthorfirstNameThomaslastNameLiehrabstractNoteBackgroundnCopynumbervariationsCNVshavingnoobviousclinicaleffectswererediscoveredasmajorpartofhumangenomein2004.HoweverforeverycytogeneticistmicroscopicallyvisibleharmlessCNVsCG-CNVsarewellknownsincedecades.HarmlessCG-CNVscanbepresentasheterochromaticorevenaseuchromaticvariantsinclinicallyhealthypersons.nnResultsnHereIprovideareviewonwhatisknowntodayonthestilltoolittlestudiedharmlesshumanCG-CNVspointoutwhichcanbemixedupwithclinicallyrelevantpathologicalCG-CNVsandshortlydiscussthattheartificialseparationofeuchromaticsubmicroscopicCNVsMG-CNVsandeuchromaticCG-CNVsisnolongertimely.nnConclusionnOverallneitherso-calledharmlessheterochromaticnorso-calledharmlesseuchromaticCG-CNVsareconsideredenoughinevaluationofroutinecytogeneticanalysisandreporting.Thisholdsespeciallytruewhenbearinginmindtheso-calledtwo-hitmodelsuggestingthatcombinationofperseharmlessCNVsmayleadtoclinicalaberrationsiftheyarepresenttogetherinonepatient.date2016-1-22sectionpartNumberpartTitleDOI10.1186s13039-016-0216-1citationKeyurlhttpswww.ncbi.nlm.nih.govpmcarticlesPMC4724132PMID26807150PMCIDPMC4724132ISSN1755-8166languagecollections4NWEHI5RdateModified2026-05-09T061110Z
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.
