Distinctively Different Phenotypes of Two Cases with a Rare Karyotype of 45,X/47,XYY Mosaicism: Case Report and Literature Review

Distinctively Different Phenotypes of Two Cases with a Rare Karyotype of 45,X/47,XYY Mosaicism: Case Report and Literature Review

The 45,X/47,XYY mosaicism is an extremely rare genetic disorder with highly phenotypic manifestations such as ovotesticular disorders of sexual development, mixed gonadal dysgenesis and Turner syndrome. Herein, we report two cases with very distinctive phenotypes despite having the same sex chromoso...

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Bibliographic Details
Main Authors: Özge Köprülü, Sezer Acar, Kadri Murat Erdoğan, Özlem Nalbantoğlu, Tarık Kırkgöz, Gülçin Arslan, Beyhan Özkaya, Yaşar Bekir Kutbay, Behzat Özkan
Format: Article
Language:English
Published: Galenos Yayinevi 2022-12-01
Series:Journal of Pediatric Research
Subjects:
45
x/47
xyy
turner syndrome
ambiguous genitalia
gonadal dysgenesis
Online Access: http://jpedres.org/archives/archive-detail/article-preview/distinctively-different-phenotypes-of-two-cases-wi/57510

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