Intrachromosomal triplication of 15q11-q13.

A 7 year old girl with intrachromosomal triplication 46,XX,-15,+der(15)(pter-->q13::q13-->q11::q11-->qter) resulting in tetrasomy of 15q11-q13 is reported. Fluorescence in situ hybridisation confirmed that the tetrasomic region included the entire segment normally deleted in Prader-Willi an...

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Bibliographic Details
Main Authors: Schinzel, A A, Brecevic, L, Bernasconi, F, Binkert, F, Berthet, F, Wuilloud, A, Robinson, W P
Format: Artigo
Language:Inglês
Published: 1994
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050127/
https://ncbi.nlm.nih.gov/pubmed/7837257
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