Prenatal diagnosis of a de novo tetrasomy 15q24.3-25.3: Case report and literature review.

ABSTRACT:

Background

Terminal duplication on chromosome 15q is a rare chromosomal variation. Affected individuals show similar features such as growth dysplasia or the development of frontal bossing, body deformities, facial abnormalities, and genitourinary or cardiovascular disorders. However, it is not yet clear whether such 15q repeats lead to identifiable patterns of clinical abnormalities. Therefore, the purpose of this study was to analyze the prenatal diagnostic results and clinical manifestations of a fetus with 15q duplication and to summarize the literature.

Methods

The case was a fetus at 28 weeks of gestation. The risk of Down syndrome from second-trimester screening was 1/140. Prenatal ultrasound and amniocentesis were performed, and chromosomal microarray analysis (CMA)

SUBMITTER: Hu X 

PROVIDER: S-EPMC7370735 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature