A report on seven fetal cases associated with 15q11-q13 microdeletion and microduplication.

ABSTRACT:

Background

The 15q11-q13 region contains three breakpoints (BP1 to BP3), and copy number variations often occur in the region.

Aims

15q11-q13 microdeletion and microduplication are usually associated with Prader-Willi and Angelman syndromes, respectively. It is not yet clear to what extent microdeletion and microduplication affect the physical health of the fetus and the child. In this study, we examined seven fetuses ranging in gestational age from 15 to 27 weeks.

Materials & methods

Detailed prenatal screening and laboratory examinations were performed, while karyotype analysis and chromosomal microarray analysis (CMA) of the amniotic fluid and umbilical cord blood were applied for genetic analysis.

Results

CMA analysis showed that four fetuses harbored a mic

SUBMITTER: Huang X 

PROVIDER: S-EPMC8104164 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature