Case Report: Prenatal diagnosis of 10 fetuses with 15q11-q13 duplication and pregnancy outcome in a cohort of Chinese women.

ABSTRACT: The chromosome 15q11-q13 duplication (dup15q) is defined as the presence of three or more copies of 15q11.2-q13.1. The features of the chromosome 15q11-q13 duplication syndrome include developmental delay, intellectual disability, hypotonia, facial anomalies, autism spectrum disorder, seizures, and behavioral problems. To date, more than 120 cases of 15q11-q13 duplication have been reported, but studies on clinical information about prenatal diagnosis of 15q11-q13 duplication and attitudes toward fetuses with 15q11-q13 duplication are extremely limited. Herein, we first report a retrospective Chinese cohort with prenatal diagnosis of 15q11-q13 duplication involving ten phenotypically normal pregnant women. In this Chinese cohort, most of fetuses (90%) with 15q11-q13 duplications did not ha

SUBMITTER: Wu K 

PROVIDER: S-EPMC12488580 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature