Genetic analysis of a patient featuring developmental delay and mental retardation.
- Author:
Nan BAI
1
;
Yifan LIU
;
Shiyue MEI
;
Xiangdong KONG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Child, Preschool; Chromosome Aberrations; Chromosome Banding; Chromosomes, Human, Pair 12; genetics; Chromosomes, Human, Pair 15; genetics; Developmental Disabilities; genetics; Female; Humans; Intellectual Disability; genetics; Karyotyping; Male; Translocation, Genetic
- From: Chinese Journal of Medical Genetics 2016;33(2):208-211
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the genetic cause for a child featuring developmental delay and mental retardation.
METHODSThe child was analyzed with G-banded karyotyping and an Illumina Human CytoSNP-12 Beadchip.
RESULTSThe father of the patient had a normal karyotype. The mother had a karyotype of 46, XX, t(12;15)(p13.3;q13). The child had a karyotype of 45, XY, der(12)t(12;15)(p13.3;q13)mat, -15. SNP array analysis showed that the child has deletions in 12p13.31-p13.33 and 15q11.2-q13.2. But no deletion or duplication was detected in his mother.
CONCLUSIONThe unbalanced translocation involving chromosomes 12 and 15 probably accounts for the mental retardation in the child. SNP array is useful for the detection of chromosomal rearrangements and genetic counseling.
