Genetic analysis of a mental retardation patient with a rare karyotype involving complex rearrangements of five chromosomes.
- Author:
Qiong PAN
1
;
Xin JIN
;
Liyan ZHU
;
Yue HU
;
Fengting ZHANG
;
Longfei CHENG
;
Ying NING
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Chromosome Banding; methods; Chromosome Deletion; Chromosomes; genetics; Female; Genetic Testing; methods; Humans; Intellectual Disability; genetics; Karyotype
- From: Chinese Journal of Medical Genetics 2017;34(4):534-537
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the genetic cause of a female patient with severe mental retardation and a history of adverse pregnancy.
METHODSThe patient was subjected to G-banded chromosome analysis and single nucleotide polymorphism array (SNP-array) assaying. The correlation between genomic variations and the phenotype was explored.
RESULTSThe patient was found to have a complex chromosome rearrangement involving 5 chromosomes. The karyotypes of her parents were both normal. SNP-array assay has identified a 1.6 Mb microdeletion at chromosome 15q21.3 which involved 15 RefSeq genes and a 0.5 Mb microdeletion at 5q21.1 which involved one RefSeq gene.
CONCLUSIONThe microdeletions, which involved TCF12, ADMA10 and AQP9 genes, probably underlie the mental retardation shown by the patient.
