Prenatal diagnosis of a de novo 15q11.2 microdeletion in a maternal inv(4)(p15q31) fetus with increased nuchal translucency: A case report and literature review.

ABSTRACT:

Rationale

15q11.2 microdeletion syndrome is a relatively rare chromosomal abnormality with incomplete penetrance and phenotypic variability. The reports on prenatal ultrasound abnormalities of fetus with 15q11.2 microdeletion are rare.

Patient concerns

A 30-year-old woman was referred for genetic counseling and prenatal diagnosis at 19 weeks of gestation because of increased nuchal translucency in prenatal ultrasound findings and a history of spontaneous abortion.

Diagnoses

The cytogenetic analysis showed the karyotype of the fetus was 46,XY, inv(4)(p15q31) and chromosomal microarray analysis detected a 0.512 Mb deletion in 15q11.2 region. We recalled the parents to determine the origination of these chromosomal abnormalities.

Interventions

The pregnant woman c

SUBMITTER: Sun M 

PROVIDER: S-EPMC7535770 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature