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Type: Journal article
Title: Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies
Author: Baker, E.
Hinton, L.
Callen, D.
Altree, M.
Dobbie, A.
Eyre, H.
Sutherland, G.
Thompson, E.
Thompson, P.
Woollatt, E.
Haan, E.
Citation: American Journal of Medical Genetics. Part A, 2002; 107(4):285-293
Publisher: Wiley-Liss
Issue Date: 2002
ISSN: 1552-4825
Statement of
Elizabeth Baker, Lyn Hinton, David F. Callen, Meryl Altree, Angus Dobbie, Helen J. Eyre, Grant R. Sutherland, Elizabeth Thompson, Peter Thompson, Erica Woollatt, and Eric Haan
Abstract: Cryptic subtelomeric chromosome anomalies have been recognized as a significant cause of dysmorphology and mental retardation. To determine whether the clinical cytogenetics laboratory should screen routinely for these aberrations, we have tested 250 patients with idiopathic mental retardation/developmental delay, either isolated (53) or associated with dysmorphic features and/or malformations in the absence of a recognizable syndrome (197). All had normal karyotypes at the 550-850 band level. Subtelomeric anomalies were found in 1/53 of the first group (1.9%) and 8/197 of the second group (4.1%). In one patient, two separate anomalies were present: a deletion (not inherited) and a duplication (inherited). It is possible that one of these 10 observed aberrations might represent a rare and previously unreported polymorphism and one a rare cross-hybridization. Our study supports the proposition that cryptic subtelomeric rearrangements are a significant cause of idiopathic mental retardation/developmental delay, but both the diversity of the phenotypes of the positive cases and the wide diversity of their associated chromosome abnormalities emphasize the central problem for the clinical cytogenetics laboratory-that of choosing the most productive patient base for this useful diagnostic test.
Keywords: idiopathic mental retardation; subtelomeric rearrangements; cryptic chromosome abnormalities
Description: © 2001 Wiley-Liss, Inc.
RMID: 0020020863
DOI: 10.1002/ajmg.10159
Appears in Collections:Paediatrics publications

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