Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter

<p>Abstract</p> <p>Background</p> <p>Cryptic chromosome imbalances are increasingly acknowledged as a cause for mental retardation and learning disability. New phenotypes associated with specific rearrangements are also being recognized. Techniques for screening for sub...

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Main Authors: Tommerup Niels, Baekgaard Peter, Pedersen Vibeke, Ledaal Paal, Friis Birgitte, Hahnemann Johanne, Hjalgrim Helle, Tümer Zeynep, Sogaard Marie, Cingöz Sultan, Duno Morten, Brondum-Nielsen Karen
Format: Article
Language:English
Published: BMC 2005-05-01
Series:BMC Medical Genetics
Online Access:http://www.biomedcentral.com/1471-2350/6/21
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spelling doaj-d1e591545d4245d28627aadc6e1a19792021-04-02T14:26:13ZengBMCBMC Medical Genetics1471-23502005-05-01612110.1186/1471-2350-6-21Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qterTommerup NielsBaekgaard PeterPedersen VibekeLedaal PaalFriis BirgitteHahnemann JohanneHjalgrim HelleTümer ZeynepSogaard MarieCingöz SultanDuno MortenBrondum-Nielsen Karen<p>Abstract</p> <p>Background</p> <p>Cryptic chromosome imbalances are increasingly acknowledged as a cause for mental retardation and learning disability. New phenotypes associated with specific rearrangements are also being recognized. Techniques for screening for subtelomeric rearrangements are commercially available, allowing the implementation in a diagnostic service laboratory. We report the diagnostic yield in a series of 132 subjects with mental retardation, and the associated clinical phenotypes.</p> <p>Methods</p> <p>We applied commercially available subtelomeric fluorescence in situ hybridization (FISH). All patients referred for subtelomeric screening in a 5-year period were reviewed and abnormal cases were further characterized clinically and if possible molecularly.</p> <p>Results</p> <p>We identified nine chromosomal rearrangements (two of which were in sisters) corresponding to a diagnostic yield of approx. 7%. All had dysmorphic features. Five had imbalances leading to recognizable phenotypes.</p> <p>Conclusion</p> <p>Subtelomeric screening is a useful adjunct to conventional cytogenetic analyses, and should be considered in mentally retarded subjects with dysmorphic features and unknown cause.</p> http://www.biomedcentral.com/1471-2350/6/21
collection DOAJ
language English
format Article
sources DOAJ
author Tommerup Niels
Baekgaard Peter
Pedersen Vibeke
Ledaal Paal
Friis Birgitte
Hahnemann Johanne
Hjalgrim Helle
Tümer Zeynep
Sogaard Marie
Cingöz Sultan
Duno Morten
Brondum-Nielsen Karen
spellingShingle Tommerup Niels
Baekgaard Peter
Pedersen Vibeke
Ledaal Paal
Friis Birgitte
Hahnemann Johanne
Hjalgrim Helle
Tümer Zeynep
Sogaard Marie
Cingöz Sultan
Duno Morten
Brondum-Nielsen Karen
Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter
BMC Medical Genetics
author_facet Tommerup Niels
Baekgaard Peter
Pedersen Vibeke
Ledaal Paal
Friis Birgitte
Hahnemann Johanne
Hjalgrim Helle
Tümer Zeynep
Sogaard Marie
Cingöz Sultan
Duno Morten
Brondum-Nielsen Karen
author_sort Tommerup Niels
title Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter
title_short Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter
title_full Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter
title_fullStr Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter
title_full_unstemmed Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter
title_sort subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter
publisher BMC
series BMC Medical Genetics
issn 1471-2350
publishDate 2005-05-01
description <p>Abstract</p> <p>Background</p> <p>Cryptic chromosome imbalances are increasingly acknowledged as a cause for mental retardation and learning disability. New phenotypes associated with specific rearrangements are also being recognized. Techniques for screening for subtelomeric rearrangements are commercially available, allowing the implementation in a diagnostic service laboratory. We report the diagnostic yield in a series of 132 subjects with mental retardation, and the associated clinical phenotypes.</p> <p>Methods</p> <p>We applied commercially available subtelomeric fluorescence in situ hybridization (FISH). All patients referred for subtelomeric screening in a 5-year period were reviewed and abnormal cases were further characterized clinically and if possible molecularly.</p> <p>Results</p> <p>We identified nine chromosomal rearrangements (two of which were in sisters) corresponding to a diagnostic yield of approx. 7%. All had dysmorphic features. Five had imbalances leading to recognizable phenotypes.</p> <p>Conclusion</p> <p>Subtelomeric screening is a useful adjunct to conventional cytogenetic analyses, and should be considered in mentally retarded subjects with dysmorphic features and unknown cause.</p>
url http://www.biomedcentral.com/1471-2350/6/21
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