Genetic diagnosis of a child with Smith-Magenis syndrome.
10.3760/cma.j.issn.1003-9406.2019.07.017
- Author:
Yue GAO
1
;
Dong WU
;
Xiaodong HUO
;
Mengting ZHANG
;
Qiaofang HOU
;
Hongdan WANG
;
Shixiu LIAO
Author Information
1. Henan Provincial People's Hospital, Medical Genetic Institute of Henan Province, People's Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China. ychslshx@126.com.
- Publication Type:Journal Article
- MeSH:
Child;
Chromosome Deletion;
Chromosome Duplication;
Chromosomes, Human, Pair 17;
genetics;
Comparative Genomic Hybridization;
Female;
Humans;
Karyotyping;
Smith-Magenis Syndrome;
genetics
- From:
Chinese Journal of Medical Genetics
2019;36(7):724-726
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the molecular mechanism of a girl with developmental delay and intellectual disability.
METHODS:Chromosomal karotypes of the child and her parents were analyzed with routine G-banding method. Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH) for chromosomal duplications/deletions.
RESULTS:No karyotypic abnormality was detected in the child and her parents, while aCGH has identified a de novo 3.37 Mb deletion at 17p11.2 in the child.
CONCLUSION:The child was diagnosed with Smith-Magenis syndrome, for which RAI1 may be the causative gene.
