Prenatal and postnatal diagnoses and phenotype of 8p23.3p22 duplication in one family.

ABSTRACT:

Background

Distal 8p duplication is rare but clinically significant. Duplication syndrome results in variable phenotypes, such as developmental delay, intellectual disability, and malformation of the heart. We aimed to provide a better understanding of the phenotypes by studying duplication and its effects in a single family.

Methods

In a family with a previously induced labor (second fetus) at 12 weeks gestation due to increased nuchal translucency (3.5 mm), copy number variation sequencing (CNV-seq) revealed a 16.22 Mb deletion of 8p23.3p22. For their subsequent pregnancy, the family requested a prenatal diagnosis as well as CNV-seq, karyotyping and FISH testing of all family members.

Results

The first and third children were found to have a 16.22 Mb duplication of

SUBMITTER: Shi P 

PROVIDER: S-EPMC7988938 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature