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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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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