Prenatal Diagnosis of a De Novo Tetrasomy 15q24.3-25.3: Case Report and Literature Review

Overview

Journal J Clin Lab Anal

Publisher Wiley

Specialties Biomedical Engineering
Biotechnology
Pathology

Date 2020 Mar 19

PMID 32185823

Citations 3

Authors

Xiaonan Hu

Leilei Li

Hongguo Zhang

Zhuming Hu

Linlin Li

Meiling Sun

Ruizhi Liu

Affiliations

Soon will be listed here.

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) was used for genetic analysis.

Results: The fetus had abnormal clinical features, including intracardiac echogenic focus in the left ventricle, an aberrant right subclavian artery, and growth delay. The fetal chromosomal karyotype was 46,XX,15q?,12q?,21pstk+, and CMA revealed a 10.163 Mb duplication at 15q24.3-q25.3. The couple chose to terminate the pregnancy after careful consideration.

Conclusions: The combination and rational application of cytogenetics technology and molecular genetics technology such as CMA will open up the field of clinical application and provide useful genetic counseling for parents of fetuses carrying such chromosomal duplications.

Citing Articles

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The Application of Optical Genome Mapping (OGM) in Severe Short Stature Caused by Duplication of 15q14q21.3.

Ke X, Yang H, Pan H, Jiang Y, Li M, Zhang H Genes (Basel). 2023; 14(5).

PMID: 37239376 PMC: 10218401. DOI: 10.3390/genes14051016.

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

Hu X, Li L, Zhang H, Hu Z, Li L, Sun M J Clin Lab Anal. 2020; 34(7):e23288.

PMID: 32185823 PMC: 7370735. DOI: 10.1002/jcla.23288.

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