Genetic analysis of a Chinese pedigree affected with overgrowth syndrome due to a small supernumerary marker chromosome.
10.3760/cma.j.cn511374-20220225-00126
- VernacularTitle:额外标记染色体所致过度生长综合征一个家系的遗传学分析
- Author:
Yuxia JIN
1
;
Suping LI
Author Information
1. Center of Prenatal diagnosis, Yiwu Maternity and Child Health Care Hospital, Yiwu, Zhejiang 322015, China. jyx0805@163.com.
- Publication Type:Journal Article
- MeSH:
Female;
Humans;
Chromosomes;
East Asian People;
In Situ Hybridization, Fluorescence;
Karyotyping;
Pedigree;
Polymorphism, Single Nucleotide;
Intellectual Disability/genetics*;
Chromosome Duplication/genetics*;
Male
- From:
Chinese Journal of Medical Genetics
2023;40(11):1425-1429
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To carry out genetic analysis for a Chinese pedigree affected with intellectual disability and overgrowth due to a supernumerary marker chromosome (sSMC).
METHODS:A pedigree which had presented at Jiaxing Maternity and Child Health Care Hospital on August 31, 2021 was selected as the study subject, for which chromosomal karyotyping, single nucleotide polymorphism-based microarray (SNP-array), and fluorescence in situ hybridization (FISH) were carried out in combination.
RESULTS:SNP-array analysis showed that the proband and his sister had both harbored a 16.1 Mb duplication which encompassed the critical region of 15q26 overgrowth syndrome. FISH confirmed that the proband was 47,XX,+neo(15)(qter→q25.3:)mat, her mother was 47,XX,del(15)(q25.3:),+neo(15)(qter→q25.3:), whilst her father was normal.
CONCLUSION:Application of multiple genetic techniques has facilitated delineation of the origin of sSMC and reliable genetic counseling for this pedigree.
