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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: 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
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: BioMed Central 2005
Θέματα:
Research Article
Διαθέσιμο Online: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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