Researchers at Shanghai Jiao Tong University Report New Data on Molecular Genetics and Genomic Medicine [Recurrent Human 16p11.2 Microdeletions In Type I Mayer-rokitansky-kuster-hauser (Mrkh) Syndrome Patients In Chinese Han Population].
Zdroj: | Genomics & Genetics Weekly; 5/3/2024, p1315-1315, 1p |
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Abstrakt: | A study conducted by researchers at Shanghai Jiao Tong University in China has identified a potential genetic risk factor for Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, a congenital malformation of the female genital tract. The study found recurrent 16p11.2 microdeletions in two out of 143 Chinese Han patients with type I MRKH syndrome, while no deletions were found in the control group. The findings suggest that 16p11.2 microdeletions should be considered in the molecular diagnosis and genetic counseling of female reproductive tract disorders. [Extracted from the article] |
Databáze: | Supplemental Index |
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