Cytogenetic and Genome Research

Novel Insights from Clinical Practice

Chen J.a· Lyu G.-Z.b· Jiang F.a· Zhang V.W.b· Li D.-Z.a

Author affiliations

aPrenatal Diagnosis and Reproduction Department, Guangzhou Women and Children’s Medical Center Affiliated to Guangzhou Medical University, Guangzhou, China
bAmCare Genomics Laboratory, Guangzhou, China

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Article / Publication Details

First-Page Preview

Received: February 07, 2022
Accepted: December 06, 2022
Published online: March 09, 2023

Number of Print Pages: 5
Number of Figures: 1
Number of Tables: 1

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: https://www.karger.com/CGR

Abstract

Chromosomal abnormalities are a common cause of spontaneous abortions, but conventional detection methods (karyotype, FISH, and chromosomal microarray [CMA]) have limitations, and many cryptic balanced chromosomal rearrangements are difficult to detect. We describe a couple who experienced a missed abortion, studied by CMA. CMA of the abortion tissue detected a 1.62-Mb duplication at 14q11.2 and a 5.09-Mb deletion at 21q11.2q21.1, while the couple seemed to have a normal karyotype. Combining the results of CMA, whole-genome sequencing (WGS) breakpoint analysis, Sanger sequencing, and FISH, we found that the father was a 46,XY,t(14;21)(q11.2;q21.1) balanced translocation carrier. Our results indicate that WGS is an efficient and accurate approach to map breakpoints of cryptic reciprocal balanced translocations undetectable by standard karyotype.

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First-Page Preview

Received: February 07, 2022
Accepted: December 06, 2022
Published online: March 09, 2023

Number of Print Pages: 5
Number of Figures: 1
Number of Tables: 1

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: https://www.karger.com/CGR

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