Recurrent human 16p11.2 microdeletions in type I Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome patients in Chinese Han population.

ABSTRACT:

Backgrounds

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, a severe congenital malformation of the female genital tract, is a highly heterogeneous disease which has no clear etiology. Previous studies have suggested that copy number variations (CNVs) and single-gene mutations might contribute to the development of MRKH syndrome. In particular, deletions in 16p11.2, which are suggested to be involved in several congenital diseases, have been reported in Chinese type II MRKH patients and European MRKH patients. However, few CNVs including 16p11.2 microdeletions were identified in Chinese type I MRKH cases although it accounted for the majority of MRKH patients in China. Thus, we conducted a retrospective study to identify whether CNVs at human chromosome 16p11.2 are risk factors of

SUBMITTER: Su K 

PROVIDER: S-EPMC10767395 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature