Clinical and genetic analysis of three pediatric patients with 15q24 microdeletion syndrome.
10.3760/cma.j.issn.1003-9406.2019.07.004
- Author:
Xiangyi JING
1
;
Lei ZHANG
;
Ru LI
;
Yongling ZHANG
;
Fucheng LI
;
Cuixing YI
;
Can LIAO
Author Information
1. Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, Guangdong 510623, China. canliao6008@163.com.
- Publication Type:Journal Article
- MeSH:
Adaptor Proteins, Signal Transducing;
genetics;
Antigens, CD;
genetics;
Child;
Chromosome Deletion;
Chromosome Disorders;
genetics;
Chromosomes, Human, Pair 15;
genetics;
GPI-Linked Proteins;
genetics;
Humans;
Intellectual Disability;
genetics;
Repressor Proteins;
genetics;
Semaphorins;
genetics
- From:
Chinese Journal of Medical Genetics
2019;36(7):672-675
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for three patients with development delay and to correlate their clinical phenotypes with genetic findings.
METHODS:The karyotypes of the probands and their parents were analyzed by conventional G-banding. Chromosomal microarray analysis (CMA) was used to detect microdeletion and microduplication.
RESULTS:No kartotypic abnormality was detected in the patients and their parents. CMA analysis identified a de novo 3.10 Mb deletion on chromosome 15q24.1q24.2 in case 1, a de novo 3.14 Mb deletion at 15q24.1q24.2 in case 2, and a 3.13 Mb deletion at 15q24.1q24.2 in case 3. All deletions have encompassed the CPLX3,SEMA7A and SIN3A genes.
CONCLUSION:The three patients were diagnosed with 15q24 microdeletion syndrome. CPLX3,SEMA7A and SIN3A may be the key genes responsible for this syndrome.
