Clinical outcomes of fetuses with chromosome 16 short arm copy number variants.

ABSTRACT:

Background

The short arm of chromosome 16 consists of several copy number variants (CNVs) that are crucial in neurodevelopmental disorders; however, incomplete penetrance and diverse phenotypes after birth aggravate the difficulty of prenatal genetic counseling.

Methods

We screened 15,051 pregnant women who underwent prenatal chromosomal microarray analysis between July 2012 and December 2017. Patients with positive array results were divided into four subgroups based on the type of mutation identified on screening (16p13.3, 16p13.11, 16p12.2, and 16p11.2), and the maternal characteristics, prenatal examinations, and postnatal outcomes of different cases were reviewed.

Results

Chromosome 16 CNVs were identified in 34 fetuses, including four with 16p13.3 CNVs, 22 with

SUBMITTER: Kang J 

PROVIDER: S-EPMC10337270 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature