PMID- 15300639
OWN - NLM
STAT- MEDLINE
DCOM- 20090303
LR  - 20111117
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 21
IP  - 4
DP  - 2004 Aug
TI  - [Chromosome microdeletions detected in mental retardation].
PG  - 379-81
AB  - OBJECTIVE: To explore whether chromosomal microdeletions have a role in the 
      pathogenesis of unexplained mental retardation (MR) and the value of fluorescence 
      in situ hybridization (FISH) in the detection of microdeletions in MR. METHODS: 
      Selection of patients was based on the following criteria: (1) MR with two or 
      more of the following: dysmorphic features, prenatal growth retardation, 
      postnatal growth abnormalities, a suggestive family history; (2) Chromosome 
      karyotype at the level >450 bands was normal; (3) Exclusion of other identified 
      genetic or environmental diagnosis. FISH was carried out with specific DNA probe 
      to 47 undiagnosed MR to identify interstitial microdeletions and further screen 
      the integrity chromosome subtelomere. RESULTS: Six cases were analyzed by FISH 
      for special interstitial microdeletions and anomaly was found in one case with 
      7q11.23 deletion. Subtelomeric FISH analyses were performed in 46 patients, and 
      two cases with a deletion of subtelomeric region of chromosome 6q and 2q 
      respectively were identified. CONCLUSION: Chromosome microdeletions are supposed 
      to be a significant cause of idiopathic MR, once recognizable syndromes have been 
      excluded, FISH analyses for interstitial microdeletions and subtelomeric 
      rearrangements are warranted in children with unexplained MR.
FAU - Li, Rong
AU  - Li R
AD  - Department of Children Health Care, Children's Hospital of Zhejiang University 
      College of Medicine, Hangzhou, Zhejiang, 310003 PR China.
FAU - Zhao, Zheng-yan
AU  - Zhao ZY
FAU - Pai, Shashidhar
AU  - Pai S
LA  - chi
PT  - English Abstract
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
SB  - IM
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 2/genetics
MH  - Chromosomes, Human, Pair 6/genetics
MH  - Genetic Predisposition to Disease
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/*genetics
EDAT- 2004/08/10 05:00
MHDA- 2009/03/04 09:00
CRDT- 2004/08/10 05:00
PHST- 2004/08/10 05:00 [pubmed]
PHST- 2009/03/04 09:00 [medline]
PHST- 2004/08/10 05:00 [entrez]
AID - 940621094 [pii]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Aug;21(4):379-81.