Phenotypic and genetic analysis of a child with partial trisomy 7q.
10.3760/cma.j.cn511374-20220415-00252
- VernacularTitle:7q部分重复患儿1例的表型及遗传学分析
- Author:
Chaojie WANG
1
;
Dongxiao LI
;
Yaodong ZHANG
;
Jinghui KONG
;
Rui LI
;
Chao GAO
;
Qing SHANG
;
Huichun ZHANG
Author Information
1. Henan Provincial Key Laboratory of Children's Genetic and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450018, China. zhanghuichun1983@163.com.
- Publication Type:Journal Article
- MeSH:
Female;
Humans;
Trisomy/genetics*;
Phenotype;
Genotype;
Karyotyping;
Chromosome Banding
- From:
Chinese Journal of Medical Genetics
2023;40(5):604-608
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To define the nature and origin of a chromosomal aberration in a child with unexplained growth and development retardation, and to analyze its genotype-phenotype correlation.
METHODS:A child who had presented at the Affiliated Children's Hospital of Zhengzhou University on July 9, 2019 was selected as the study subject. Chromosomal karyotypes of the child and her parents were determined with routine G-banding analysis. Their genomic DNA was also analyzed with single nucleotide polymorphism array (SNP array).
RESULTS:Karyotyping analysis combined with SNP array suggested that the chromosomal karyotype of the child was 46,XX,dup(7)(q34q36.3), whilst no karyotypic abnormality was found in either of her parents. SNP array has identified a de novo 20.6 Mb duplication at 7q34q36.3 [arr[hg19] 7q34q36.3(138335828_158923941)×3] in the child.
CONCLUSION:The partial trisomy 7q carried by the child was rated as a de novo pathogenic variant. SNP array can clarify the nature and origin of chromosomal aberrations. Analysis of the correlation between genotype and phenotype can facilitate the clinical diagnosis and genetic counseling.
