Prenatal diagnosis and genetic analysis of a rare case with 8p deletion and duplication.
10.3760/cma.j.cn511374-20220112-00029
- VernacularTitle:罕见的8p部分缺失伴重复患儿1例的临床及遗传学分析
- Author:
Xinying CHEN
1
;
Hanbin PAN
;
Shuhong ZENG
;
Yuying JIANG
;
Yuanbai WANG
;
Jianlong ZHUANG
Author Information
1. Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital. Quanzhou, Fujian 362000, China. 415913261@qq.com.
- Publication Type:Journal Article
- MeSH:
Humans;
Child;
Pregnancy;
Female;
Intellectual Disability/genetics*;
Prenatal Diagnosis;
Karyotyping;
Chromosome Banding;
Chromosome Deletion
- From:
Chinese Journal of Medical Genetics
2023;40(1):96-100
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic etiology for a child featuring mental retardation, language delay and autism.
METHODS:G-banding chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) were carried out for the child and her parents.
RESULTS:The child was found to have a 46,XX,dup(8p?) karyotype, for which both of her parents were normal. SNP-array revealed that the child has harbored a 6.8 Mb deletion in 8p23.3p23.1 and a 21.8 Mb duplication in 8p23.1p12, both of which were verified as de novo pathogenic copy number variants.
CONCLUSION:The clinical features of the child may be attributed to the 8p deletion and duplication. SNP-array can facilitate genetic diagnosis for children featuring mental retardation in conjunct with other developmental anomalies.
