Phenotypic and genetic analysis of a child featuring multiple malformations due to chromosome 14q deletion.
- Author:
Hongdan WANG
1
;
Dong WU
;
Litao QIN
;
Tao WANG
;
Hui ZHANG
;
Mengyan XING
;
Shixiu LIAO
Author Information
- Publication Type:Case Reports
- MeSH: Abnormalities, Multiple; genetics; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 14; Comparative Genomic Hybridization; Female; Humans; Microsatellite Repeats; Phenotype
- From: Chinese Journal of Medical Genetics 2016;33(3):361-364
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze a child with mental retardation, growth retardation and language development disorders.
METHODSConventional G-banding analysis was performed on chromosomes cultivated from peripheral blood samples derived from the child and her parents. Array-comparative genomic hybridization (aCGH) was performed to detect minor structural chromosomal abnormalities, and the result was confirmed by short tandem repeats (STR) analysis.
RESULTSFor the child and her parents, no karyotypic abnormality was detected. However, aCGH analysis has identified a 14q22.1 deletion in the child. The microdeletion, with a size of 2.9 Mb was confirmed by STR analysis.
CONCLUSIONThe 2.9 Mb chromosomal microdeletion probably underlies the mental retardation, growth retardation and language development disorders in the child.
