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...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: 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
التنسيق: Artigo
اللغة:Inglês
منشور في: BioMed Central 2005
الموضوعات:
Research Article
الوصول للمادة أونلاين: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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