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

BACKGROUND: 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, al...

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Autores principales: Sogaard, Marie, Tümer, Zeynep, Hjalgrim, Helle, Hahnemann, Johanne, Friis, Birgitte, Ledaal, Paal, Pedersen, Vibeke Faurholt, Baekgaard, Peter, Tommerup, Niels, Cingöz, Sultan, Duno, Morten, Brondum-Nielsen, Karen
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2005
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1174871/
https://ncbi.nlm.nih.gov/pubmed/15904506
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-6-21
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