Phenotypic and genetic analysis of a girl with multiple congenital deformities due to 2p15-p16.1 microdeletion syndrome.
- Author:
Dong WU
1
;
Hongdan WANG
;
Hui ZHANG
;
Qiaofang HOU
;
Litao QIN
;
Tao WANG
;
Hai XIAO
;
Shixiu LIAO
;
Yingtai WANG
Author Information
- Publication Type:Case Reports
- MeSH: Abnormalities, Multiple; diagnosis; genetics; Adolescent; Chromosome Banding; Chromosome Deletion; Chromosome Disorders; diagnosis; genetics; Chromosomes, Human, Pair 2; genetics; Comparative Genomic Hybridization; methods; Female; Humans; Intellectual Disability; diagnosis; genetics; Microsatellite Repeats; genetics; Phenotype; Syndrome
- From: Chinese Journal of Medical Genetics 2015;32(6):823-826
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo determine the origin of chromosomal aberration for a girl with mental retardation and multiple congenital deformities.
METHODSThe karotypes of the girl and her parents were analyzed with routine G-banding .Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH). Short tandem repeats (STR) were used to confirm the results of aCGH.
RESULTSThere were no karyotypic abnormality detected at cytogenetic level. aCGH identified a de novo 1.28 Mb deletion at 2p15-p16.1 in the girl. The results of the STR confirmed the deletion affected the maternal chromosome.
CONCLUSIONThe de novo interstitial 2p15-p16.1 deletion may cause the mental retardation and multiple congenital deformities. chr2:60.5-61.5 Mb may be the minimal common region of 2p15-p16.1 microdeletion syndrome.
