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Article

Intrachromosomal triplication of 15q11-q13.

1 Oct 1994

Abstract excerpt

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 and Angelman syndrome patients, and breakpoints were similar to those reported in two tandem duplications of 15q11-q13. The...

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Identifiers

PMID: 7837257
DOI: 10.1136/jmg.31.10.798

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