Clinical and genetic analysis of a boy with 9q34.3 microdeletion syndrome.
- VernacularTitle:一例9q34.3微缺失综合征患儿的临床及遗传学分析
- Author:
Dong WU
1
;
Tao LI
;
Hongdan WANG
;
Weili SHI
;
Qiaofang HOU
;
Hui ZHANG
;
Tao WANG
;
Yanli YANG
;
Shixiu LIAO
Author Information
- Publication Type:Case Reports
- MeSH: Child; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, Pair 9; genetics; Comparative Genomic Hybridization; Craniofacial Abnormalities; genetics; Heart Defects, Congenital; genetics; Histone-Lysine N-Methyltransferase; genetics; Humans; Intellectual Disability; genetics; Karyotyping; Male
- From: Chinese Journal of Medical Genetics 2017;34(6):849-852
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo determine the origin of chromosomal aberration in a boy with mental retardation and multiple congenital malformations.
METHODSThe karotypes of the proband and his parents were analyzed with conventional G-banding. Their genomic DNA was analyzed with array comparative genomic hybridization (aCGH).
RESULTSNo karyotypic abnormality was detected in the proband and his parents. aCGH has identified a de novo 405 kb deletion at 9q34.3 in the proband, which encompassed the EHMT1 gene and part of CACNA1B gene.
CONCLUSIONThe de novo 9q34.3 deletion probably underlies the mental retardation and development delay in the boy. EHMT1 may be one of the key genes responsible for 9q34.3 microdeletion syndrome.
