[Detection of the genetic abnormalities in patients with mental retardation using multiplex ligation-dependent probe amplification assay].
OBJECTIVE
To investigate the relationship between subtelomeric rearrangements and idiopathic mental retardation (MR).


METHODS
Thirty unrelated patients were recruited using strict selection criteria. Patients were screened by multiplex ligation-dependent probe amplification (MLPA) for subtelomeric imbalance.


RESULTS
Five 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.


CONCLUSIONS
Children 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.
Zhu
Lina
L
Center of Clinical Genetics, Affiliated Bayi Children's General Hospital of Beijing Command, PLA, Beijing, 100700 PR China.
Wang
Chunzhi
C
Yang
Xiao
X
Wang
Yan
Y
Liu
Xin
X
He
Xiyu
X
D002648:Child; D002869:Chromosome Aberrations; D005260:Female; D017353:Gene Deletion; D020440:Gene Duplication; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics*; D022521:Ligase Chain Reaction / Q000379:methods*; D008297:Male