PMID- 16131774
OWN - NLM
STAT- MEDLINE
DCOM- 20060613
LR  - 20190722
IS  - 0973-7693 (Electronic)
IS  - 0019-5456 (Linking)
VI  - 72
IP  - 8
DP  - 2005 Aug
TI  - Subtelomeric rearrangements in idiopathic mental retardation.
PG  - 679-85
AB  - OBJECTIVE: To estimate the frequency of subtelomeric rearrangements in patients 
      with sporadic and non-syndromic idiopathic mental retardation (IMR). METHODS: A 
      total of 18 IMR patients were taken for the study. Selection criteria included no 
      known syndromes or chromosomes abnormalities and known causes of IMR. All 
      patients signed an informed consent to participate. Chromosome analysis was 
      carried out on all patients to rule out gross chromosome abnormalities. 
      Lymphocyte cultures were initiated and harvested using standard protocols. For 
      fluorescence in situ hybridization (FISH), Chromoprobe Multiprobe-T system was 
      used. This system consists of 24 embossed areas with each area having one 
      reversibly bound subtelomere probe for a specific chromosome. The subtelomere 
      probes were differentially labeled with green fluorescence for short arm and 
      orange for the long arm. Hybridization, washing and staining are done using 
      standard protocols. A minimum of 5 metaphases were analyzed per chromosome per 
      patient. RESULTS: A total of 2 subtelomeric rearrangements were detected (11.1%). 
      Case 1 involved a 17-year-old with severe MR, profound deafness and dysmorphic 
      features with reciprocal translocation t(3;7)(q26.2; p15.1). The second case 
      involved a 4.6-year-old with mild developmental delay and a terminal deletion of 
      the long arm of chromosome 2, del(2) (q37.3). The frequency of abnormalities 
      detected in our study is in agreement with published reports. CONCLUSION: 
      Subtelomeric screening with FISH is a useful tool for investigation of IMR, 
      however, it is not cost effective in all cases. Conventional chromosome analysis 
      coupled with targeted FISH testing might be the optimal strategy for 
      investigation of IMR.
FAU - Velagaleti, Gopalrao V N
AU  - Velagaleti GV
AD  - Department of Pediatrics, University of Texas Medical Branch, Galveston, TX, USA. 
      govelaga@utmb.edu
FAU - Robinson, Sally S
AU  - Robinson SS
FAU - Rouse, Bobby M
AU  - Rouse BM
FAU - Tonk, Vijay S
AU  - Tonk VS
FAU - Lockhart, Lillian H
AU  - Lockhart LH
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - India
TA  - Indian J Pediatr
JT  - Indian journal of pediatrics
JID - 0417442
RN  - 0 (DNA Probes)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 2
MH  - Chromosomes, Human, Pair 3
MH  - Chromosomes, Human, Pair 7
MH  - DNA Probes
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Intellectual Disability/*genetics
MH  - Karyotyping
MH  - Telomere/*genetics
MH  - *Translocation, Genetic
EDAT- 2005/09/01 09:00
MHDA- 2006/06/14 09:00
CRDT- 2005/09/01 09:00
PHST- 2005/09/01 09:00 [pubmed]
PHST- 2006/06/14 09:00 [medline]
PHST- 2005/09/01 09:00 [entrez]
AID - 10.1007/BF02724077 [doi]
PST - ppublish
SO  - Indian J Pediatr. 2005 Aug;72(8):679-85. doi: 10.1007/BF02724077.