Optical genome mapping analysis of a Chinese pedigree with a rare chromosome 17 paracentric inversion insertion.
10.3760/cma.j.cn511374-20220107-00012
- Author:
Hao WANG
1
;
Yang YANG
;
Nannan YANG
;
Yan WANG
;
Huawei LI
;
Wensheng HU
Author Information
1. Prenatal Diagnosis Center, Hangzhou Women's Hospital, Hangzhou, Zhejiang 310008, China. huws@zju.edu.cn.
- Publication Type:Journal Article
- MeSH:
Pregnancy;
Humans;
Female;
Pedigree;
In Situ Hybridization, Fluorescence;
Chromosomes, Human, Pair 17/genetics*;
East Asian People;
Chromosome Aberrations;
Prenatal Diagnosis;
Chromosome Mapping;
Chromosome Inversion
- From:
Chinese Journal of Medical Genetics
2023;40(6):727-732
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To carry out optical genome mapping (OGM) for a Chinese pedigree with a rare paracentric reverse insertion of chromosome 17.
METHODS:A high-risk pregnant woman identified at the Prenatal Diagnosis Center of Hangzhou Women's Hospital in October 2021 and her family members were selected as the study subjects. Chromosome G banding analysis, fluorescence in situ hybridization (FISH), single nucleotide polymorphism array (SNP array) and OGM were applied to verify the balanced structural abnormality of chromosome 17 in the pedigree.
RESULTS:Chromosomal karyotyping analysis and SNP array assay have identified a duplication of 17q23q25 in the fetus. Karyotyping analysis of the pregnant woman showed that the structure of chromosome 17 was abnormal, whilst SNP array has detected no abnormality. OGM revealed that the woman has carried a paracentric reverse insertion, which was confirmed by FISH. The karyotype of her husband was normal.
CONCLUSION:The duplication of 17q23q25 in the fetus has derived from a paracentric reverse insertion of chromosome 17 in its mother. OGM has the advantage for delineating balanced chromosome structural abnormalities.
