Genetic analysis of a child with 13q deletion syndrome featuring congenital heart disease.
10.3760/cma.j.issn.1003-9406.2019.06.023
- Author:
Nan SHEN
1
,
2
,
3
;
Rui GOU
4
;
Han YU
5
;
Xin GAO
6
;
Huanping PANG
7
;
Yi LIU
5
;
Zhongtao GAI
8
Author Information
1. School of Medicine and Life Sciences, University of Jinan, Shandong Academy of Medical Sciences, Jinan, Shandong 250022, China
2. Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. Email: liuyily@126.com
3. gaizhongtao@sine.com.
4. Department of Cardiovascular Disease, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
5. Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
6. Department of Medical Imaging, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
7. Department of Ultrasonography, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
8. Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. Department of Cardiovascular Disease, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
- Publication Type:Journal Article
- MeSH:
Child;
Chromosome Deletion;
Chromosome Disorders;
Chromosomes, Human, Pair 13;
DNA Copy Number Variations;
Heart Defects, Congenital;
Humans
- From:
Chinese Journal of Medical Genetics
2019;36(6):620-623
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis of a child with congenital heart disease (CHD).
METHODS:Clinical examination of the child was carried out. Chromosomal microarray analysis (CMA) and quantitative PCR were carried out to detect copy number variations.
RESULTS:The major features of the child included CHD (ventricular septal defect, severe pulmonary hypertension, tricuspid regurgitation, patent ductus arteriosus, and patent foramen ovale), severe pneumonia and liver failure. A de novo 3.2 Mb deletion encompassing 25 genes in 13q34 and a paternal 2.2 Mb duplication in 19p13.3 were revealed by CMA and qPCR.
CONCLUSION:The 13q34 region probably contains susceptibility genes for CHD.
