Clinical and genetic analysis of a child with chromosomal 13q32.1-q33.3 deletion
10.3760/cma.j.issn.1003-9406.2019.12.016
- VernacularTitle: 一例染色体13q32.1-q33.3缺失患儿的临床与遗传学分析
- Author:
Hongying WANG
1
;
Chao HUANG
2
;
Li LI
3
;
Yinghua LIU
2
;
Ting WANG
2
;
Yuxin ZHANG
4
;
Haibo LI
5
Author Information
1. Department of Clinical Laboratory, Children’s Hospital of Soochow University, Suzhou, Jiangsu 215003, China
2. Center for Reproduction and Genetics, the Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, Jiangsu 215002, China
3. Department of Gynecology and Obstetrics, Yinchuan Maternal and Child Health Care Hospital, Yinchuan, Ningxia 226000, China
4. Ningbo Women and Children’s Hospital, Ningbo, Zhejiang 315000, China
5. Center for Reproduction and Genetics, the Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, Jiangsu 215002, China; Ningbo Women and Children’s Hospital, Ningbo, Zhejiang 315000, China
- Publication Type:Clinical Trail
- Keywords:
13q deletion;
Single nucleotide polymorphism-based mircoarray;
Multiple malformation;
Congenital heart diseas
- From:
Chinese Journal of Medical Genetics
2019;36(12):1213-1218
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic etiology of a child with moderate mental retardation and multiple malformations.
Methods:The child and his parents underwent conventional G banding karyotype analysis and single nucleotide polymorphism-based mircoarray (SNP-array) scan. A systematic review for chromosome 13q deletions was also conducted to explore the correlation between genotype and clinical phenotypes.
Results:G banding karyotype of the child showed a partial deletion in the long arm of chromosome 13 described as 46, XY, del(13)(q32) . SNP-array detected a deletion fragment of 11.367 Mb in 13q32.1-q33.3 region, which encompassed 30 OMIM (Online Mendelian Inheritance in Man) genes including FARP1, STK24 and ZIC2. The parents were found with no obvious abnormality in their karyotypes and SNP-array results, suggesting a de novo origin for the deletion. Combined with previous reported cases, chromosomal 13q deletions seem to have various pathogenic effects on the patients.
Conclusion:Chromosomal 13q32.1-q33.3 deletion probably underlies the disease phenotype in the child, and EFNB2 may be a candidate gene for congenital heart defect, genital malformation, hypospadias and anorectal malformations.
