Genetic analysis of a child with Pitt-Hopkins syndrome due to a 18q21.2q21.32 deletion.
10.3760/cma.j.cn511374-20210915-00750
- Author:
Yuqi ZHANG
1
;
Cuiyun QIN
;
Hanzhi WU
Author Information
1. Medical Genetics Research Center, Northwest Women's and Children's Hospital, Xi'an, Shaanxi 710061, China. 420791323@qq.com.
- Publication Type:Journal Article
- MeSH:
Child;
Chromosome Banding;
Chromosome Deletion;
DNA Copy Number Variations;
Facies;
Humans;
Hyperventilation;
Intellectual Disability/genetics*
- From:
Chinese Journal of Medical Genetics
2022;39(10):1149-1152
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic etiology of a child featuring global developmental and mental retardation.
METHODS:Chromosome G-banding karyotype analysis, copy number variation sequencing (CNV-seq) and high-resolution chromosome banding were used to screen the genomic variant in the child and his parents.
RESULTS:Both the child and his father were found to have a karyotype of 46,XY,del(18)(q21.1q21.3), whilst his mother was 46,XX. CNV-seq analysis showed that the child was arr[19]18q21.2-q21.32(chr18:48 422 190-58 039 582)×1, with a 10.58 Mb deletion which encompassed the TCF4 gene. The same deletion was found in neither parent. High-resolution banding revealed that the father has a fragment of 18q21.1q21.3 inserted into 5p13.1.
CONCLUSION:The child was diagnosed with Pitt-Hopkins syndrome due to the 18q21.2q21.32 deletion. Chromosome karyotyping and CNV-seq can effectively identify submicroscopic chromosome anomalies.
