Unbalanced X;9 translocation in an infertile male with de novo duplication Xp22.31p22.33.

Fani-Marlen RoumeliotiEirini LouizouSpyridon KarrasRozalia NeroutsouVoula VelissariouSarantis Gagos

Published in: Journal of assisted reproduction and genetics (2019)

The duplicated segment contains the pseudo-autosomal region PAR1 and more than 30 genes including SHOX, ARSE, STS, KAL1, and FAM9A and is not listed as polymorphic. Our data advocate that duplications of the Xp22.3 region may not be associated with a clinical consequence.

Keyphrases

electronic health record
genome wide
gene expression
adipose tissue
metabolic syndrome
bioinformatics analysis
skeletal muscle
transcription factor
deep learning