Detection of the genetic abnormalities in patients with mental retardation using multiplex ligation-dependent probe amplification assay.
- VernacularTitle:遗传与环境因素对儿童内向行为影响的双生子研究
- Author:
Lina ZHU
1
;
Chunzhi WANG
;
Xiao YANG
;
Yan WANG
;
Xin LIU
;
Xiyu HE
Author Information
- Publication Type:Journal Article
- MeSH: Child; Chromosome Aberrations; Female; Gene Deletion; Gene Duplication; Humans; Intellectual Disability; diagnosis; genetics; Ligase Chain Reaction; methods; Male
- From: Chinese Journal of Medical Genetics 2009;26(6):644-647
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the relationship between subtelomeric rearrangements and idiopathic mental retardation (MR).
METHODSThirty unrelated patients were recruited using strict selection criteria. Patients were screened by multiplex ligation-dependent probe amplification (MLPA) for subtelomeric imbalance.
RESULTSFive subtelomeric deletions/duplications were identified. They were: 4p deletion, 21p duplication, 10p duplication combined with 4p deletion, 15p duplication, and 9p deletion combined with 3p duplication. These subtelomeric rearrangements were previously unidentified by conventional technique.
CONCLUSIONChildren with unexplained mental retardation are related with subtelomeric rearrangements. MLPA is a rapid and an effective technique for detecting genetic abnormalities in patients with idiopathic MR.
