Genetic analysis of a mental retardation patient with a rare karyotype involving complex rearrangements of five chromosomes.
- 白话标题:一例罕见的涉及五条染色体复杂重排智力低下患者的遗传学分析
- 作者:
Qiong PAN
1
;
Xin JIN
;
Liyan ZHU
;
Yue HU
;
Fengting ZHANG
;
Longfei CHENG
;
Ying NING
作者信息
- 出版类型:Case Reports
- 医学主题词: Adult; Chromosome Banding; methods; Chromosome Deletion; Chromosomes; genetics; Female; Genetic Testing; methods; Humans; Intellectual Disability; genetics; Karyotype
- 来源: Chinese Journal of Medical Genetics 2017;34(4):534-537
- 国家China
- 语言:Chinese
-
摘要:
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.
