Phenotypic and genetic analysis of a boy with partial trisomy of 1q.
- VernacularTitle:一例1q部分三体综合征患儿的表型及遗传学研究
- Author:
Dong WU
1
;
Hui ZHANG
;
Hongdan WANG
;
Qiaofang HOU
;
Tao WANG
;
Tao LI
;
Yanli YANG
;
Shixiu LIAO
Author Information
- Publication Type:Case Reports
- MeSH: Child, Preschool; Chromosome Banding; Chromosomes, Human, Pair 1; genetics; Genetic Testing; Humans; Karyotyping; Male; Phenotype; Trisomy
- From: Chinese Journal of Medical Genetics 2017;34(3):398-401
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo delineate the nature and origin of chromosomal aberration in a boy with mental retardation and multiple congenital deformities.
METHODSThe karotypes of the proband and his parents were analyzed with routine G-banded chromosomal analysis. Genomic DNA was also analyzed with array comparative genomic hybridization (aCGH) assay.
RESULTSThe karyotype of the proband was 46,XY,add(1)(p36.3). No karyotypic abnormality was detected in either parent. aCGH has identified a de novo 25.1 Mb duplication at 1q42q44 in the proband.
CONCLUSIONThe de novo 1q42q44 duplication, which may be due to non-allelic homologous recombination mediated by low copy repeats, probably underlies the abnormalities in the proband.
