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array-CGH revealed gain of Yp11.2 in 49,XXXXY and gain of Xp22.33 in 48,XXYY karyotypes of two rare klinefelter variants

Klinefelter syndrome (KS) variants often share common features with classical syndrome but some of these variants present with a distinct phenotype. The incidence of sex chromosome tetrasomy and pentasomy are very less and generally diagnosed after prepubertal age. The early diagnosis of complex and...

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Bibliografske podrobnosti
izdano v:Intractable Rare Dis Res
Main Authors: Dhangar, Somprakash, Ghatanatti, Jagdeeshwar, Vundinti, Babu Rao
Format: Artigo
Jezik:Inglês
Izdano: International Research and Cooperation Association for Bio & Socio-Sciences Advancement 2020
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7441031/
https://ncbi.nlm.nih.gov/pubmed/32844071
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2020.01026
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