Unbalanced X;Y translocations carrying SRY in prenatal settings: Clinical, molecular, and cytogenetic analysis of three cases.

Xijing Liu Zhu ZhangXuan ZhangJiamin WangJieni JiangLingping LiHe WangShanling Liu Ting Hu

Published in: Prenatal diagnosis (2024)

This study reports that cases with unbalanced X; Y translocations carrying SRY manifested a normal female external genitalia in a prenatal setting. We speculate that the skewed XCI mediates the silence of SRY. In addition, our study emphasizes that combining clinical findings with pedigree analysis is critical for estimating the prognosis of fetuses with sex chromosome abnormalities.

Keyphrases

pregnant women
emergency department
gene expression
copy number
single molecule