Subtelomeric rearrangements in idiopathic mental retardation

Gopalrao V N Velagaleti, Sally S. Robinson, Bobby M. Rouse, Vijay S. Tonk, Lillian Lockhart

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)679-685
Number of pages7
JournalIndian Journal of Pediatrics
Volume72
Issue number8
StatePublished - Aug 2005

Fingerprint

Intellectual Disability
Chromosomes
Fluorescence In Situ Hybridization
Chromosome Aberrations
Chromosomes, Human, Pair 2
Mentally Ill Persons
Deafness
Metaphase
Informed Consent
Patient Selection
Fluorescence
Lymphocytes
Staining and Labeling
Costs and Cost Analysis

Keywords

  • FISH
  • Idiopathic mental retardation
  • Subtelomeric rearrangements

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Velagaleti, G. V. N., Robinson, S. S., Rouse, B. M., Tonk, V. S., & Lockhart, L. (2005). Subtelomeric rearrangements in idiopathic mental retardation. Indian Journal of Pediatrics, 72(8), 679-685.

Subtelomeric rearrangements in idiopathic mental retardation. / Velagaleti, Gopalrao V N; Robinson, Sally S.; Rouse, Bobby M.; Tonk, Vijay S.; Lockhart, Lillian.

In: Indian Journal of Pediatrics, Vol. 72, No. 8, 08.2005, p. 679-685.

Research output: Contribution to journalArticle

Velagaleti, GVN, Robinson, SS, Rouse, BM, Tonk, VS & Lockhart, L 2005, 'Subtelomeric rearrangements in idiopathic mental retardation', Indian Journal of Pediatrics, vol. 72, no. 8, pp. 679-685.
Velagaleti GVN, Robinson SS, Rouse BM, Tonk VS, Lockhart L. Subtelomeric rearrangements in idiopathic mental retardation. Indian Journal of Pediatrics. 2005 Aug;72(8):679-685.
Velagaleti, Gopalrao V N ; Robinson, Sally S. ; Rouse, Bobby M. ; Tonk, Vijay S. ; Lockhart, Lillian. / Subtelomeric rearrangements in idiopathic mental retardation. In: Indian Journal of Pediatrics. 2005 ; Vol. 72, No. 8. pp. 679-685.
@article{f18eadc8baf04091a75bcc04cc048cb3,
title = "Subtelomeric rearrangements in idiopathic mental retardation",
abstract = "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.",
keywords = "FISH, Idiopathic mental retardation, Subtelomeric rearrangements",
author = "Velagaleti, {Gopalrao V N} and Robinson, {Sally S.} and Rouse, {Bobby M.} and Tonk, {Vijay S.} and Lillian Lockhart",
year = "2005",
month = "8",
language = "English (US)",
volume = "72",
pages = "679--685",
journal = "Indian Journal of Practical Pediatrics",
issn = "0972-9607",
publisher = "Springer India",
number = "8",

}

TY - JOUR

T1 - Subtelomeric rearrangements in idiopathic mental retardation

AU - Velagaleti, Gopalrao V N

AU - Robinson, Sally S.

AU - Rouse, Bobby M.

AU - Tonk, Vijay S.

AU - Lockhart, Lillian

PY - 2005/8

Y1 - 2005/8

N2 - 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.

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.

KW - FISH

KW - Idiopathic mental retardation

KW - Subtelomeric rearrangements

UR - http://www.scopus.com/inward/record.url?scp=24344460276&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=24344460276&partnerID=8YFLogxK

M3 - Article

C2 - 16131774

AN - SCOPUS:24344460276

VL - 72

SP - 679

EP - 685

JO - Indian Journal of Practical Pediatrics

JF - Indian Journal of Practical Pediatrics

SN - 0972-9607

IS - 8

ER -