PMID- 18339278
OWN - NLM
STAT- MEDLINE
DCOM- 20101222
LR  - 20160607
IS  - 0578-1310 (Print)
IS  - 0578-1310 (Linking)
VI  - 45
IP  - 12
DP  - 2007 Dec
TI  - [Detection of subtelomeric rearrangements in patients with idiopathic mental 
      retardation/developmental delay].
PG  - 906-11
AB  - OBJECTIVE: To detect subtelomeric rearrangement in patients with idiopathic 
      mental retardation/developmental delays (MR/DD) and to provide new methods and 
      evidence for the etiologic diagnosis of MR/DD in China. METHODS: 1. INCLUSION 
      CRITERIA: (1) Moderate to severe MR/DD; (2) no definite perinatal brain injury; 
      (3) no toxication, hypoxia, infection of central nervous system and cranial 
      trauma; (4) routine karyotyping is normal; (5) no evidence of typical inherited 
      metabolic disorder or specific neurodegenerative disorders from cranial 
      neuro-imaging and blood/urinary metabolic diseases screening; (6) no mutation of 
      FMR1 gene in male patients plus one of the following criteria: (1) positive 
      family history of MR; (2) positive family history of miscarriages and perinatal 
      deaths; (3) abnormal growth; (4) facial and non-facial dysmorphism. 2. Multiplex 
      ligation-dependent probe amplification (MLPA) and fluorescence in situ 
      hybridization (FISH) were applied to detect subtelomeric rearrangements in 
      patients and their parents. RESULTS: Four cases were identified from 39 selected 
      cases with subtelomeric rearrangements (10%), including der (2) t (2; 4) (pter; 
      pter), 11qter del, 8pter del, and 15p11.2 del. The first two abnormalities of 
      chromosome subtelomeric regions have not been reported yet. All these cases had 
      some small dysmorphologies, such as microcephaly, hypertelorism, low nasal 
      bridge, and three of them had hypotonia. One case had recurrent seizure and 
      abnormal behavior (laughter not associated with happiness), and another case with 
      dysgenesis of corpus callosum and septum pellucidum. Family and perinatal 
      histories were normal for all cases. All chromosome rearrangements were de novo 
      which were not from the parents with normal phenotype. It indicated that all 
      these abnormal rearrangements should be responsible for the mental retardation 
      phenotype of these patients. The phenotype of case 4 was similar to Angelman 
      syndrome, his deletion was actually a kind of interstitial rearrangements. It 
      will be confirmed by DNA methylation test to determine whether the deleted allele 
      was of maternal origin. CONCLUSIONS: The subtelomeric rearrangements were found 
      in 10% patients with idiopathic MR. It indicated that subtelomeric rearrangements 
      should be one of major reasons of MR/DD related to genetic factors. Two novel 
      subtelomeric rearrangements were identified. These de novo rearrangements are 
      probably disease related, because they are not inherited from their parents with 
      normal phenotype. The detection should be carried out for all the patients with 
      idiopathic MR/DD with unknown origin, because one cannot figure out the specific 
      signs for subtelomeric rearrangements. Sequentially use of MLPA and FISH is a 
      more efficient and economic method to detect the subtelomeric rearrangements.
FAU - Wu, Ye
AU  - Wu Y
AD  - Department of Pediatrics, First Hospital, Peking University, Beijing 100034, 
      China.
FAU - Jiang, Yu-wu
AU  - Jiang YW
FAU - Wang, Xiao-zhu
AU  - Wang XZ
FAU - Wang, Hui-fang
AU  - Wang HF
FAU - Wang, Jing-min
AU  - Wang JM
FAU - Yang, Yan-ling
AU  - Yang YL
FAU - Qin, Jiong
AU  - Qin J
FAU - Zhong, Nan
AU  - Zhong N
FAU - Wu, Xi-ru
AU  - Wu XR
LA  - chi
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - China
TA  - Zhonghua Er Ke Za Zhi
JT  - Zhonghua er ke za zhi = Chinese journal of pediatrics
JID - 0417427
RN  - 0 (DNA Probes)
SB  - IM
MH  - Adolescent
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Structures
MH  - DNA Probes
MH  - Female
MH  - Gene Rearrangement
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Intellectual Disability/*genetics
MH  - Male
MH  - Mutation
MH  - Sequence Deletion
MH  - Telomere/*genetics
EDAT- 2008/03/15 09:00
MHDA- 2010/12/24 06:00
CRDT- 2008/03/15 09:00
PHST- 2008/03/15 09:00 [pubmed]
PHST- 2010/12/24 06:00 [medline]
PHST- 2008/03/15 09:00 [entrez]
PST - ppublish
SO  - Zhonghua Er Ke Za Zhi. 2007 Dec;45(12):906-11.