Copy Number Variations Are More Frequent on Chromosome 14 as Compared to X Chromosome in Suspected Turner Syndrome Girls - A Chromosomal Microarray Analysis

Introduction: Turner syndrome(TS) is defined by complete/partial monosomy of X chromosome in association with classic clinical manifestations. Conventional karyotyping is the gold standard test for diagnosis of TS. However it is labour intensive and inaccurate for detecting mosaicism, marker chromos...

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Vydáno v:J Endocr Soc
Hlavní autoři: Purwar, Naincy, Tiwari, Pradeep, Saxena, Aditya, Mathur, Nitish, Sharma, Himanshu, Sharma, Balram, Mathur, Sandeep Kumar
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2021
Témata:
Reproductive Endocrinology
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8089734/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvab048.1620
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