Inconsistency of Karyotyping and Array Comparative Genomic Hybridization (aCGH) in a Mosaic Turner Syndrome Case

Purpose  Turner syndrome is a sex chromosomal aberration where majority of the patients have 45,X karyotype, while several patients are mosaic involving 45,X/46,XX; 46,X,i(Xq); and other variants. Cytogenetic analysis, karyotyping, is considered to be the “gold standard” to detect numerical and stru...

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Bibliographic Details
Published in:Glob Med Genet
Main Authors: Tulay, Pinar, Ergoren, Mahmut Cerkez, Alkaya, Ahmet, Yayci, Eyup, Sag, Sebnem Ozemri, Temel, Sehime Gulsum
Format: Artigo
Language:Inglês
Published: Georg Thieme Verlag KG 2020
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7938938/
https://ncbi.nlm.nih.gov/pubmed/33693446
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0041-1722974
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