[Phenotypic and genetic analysis of a child featuring multiple malformations due to chromosome 14q deletion].
OBJECTIVE
To analyze a child with mental retardation, growth retardation and language development disorders.


METHODS
Conventional 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.


RESULTS
For 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.


CONCLUSIONS
The 2.9 Mb chromosomal microdeletion probably underlies the mental retardation, growth retardation and language development disorders in the child.
People's Hospital of Zhengzhou University, Henan Provincial People's Hospital, Medical Genetic Institute of Henan Province, Zhengzhou, Henan 450003, China. wanghongdan5495@163.com.
Hongdan
H
Wang
Dong
D
Wu
Litao
L
Qin
Tao
T
Wang
Hui
H
Zhang
Mengyan
M
Xing
Shixiu
S
Liao
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D018895:Microsatellite Repeats; D010641:Phenotype