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A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17

13 Dec 2006

Abstract excerpt

We describe a girl with neurofibromatosis type 1 (NF1), mild dysmorphic features, growth and mental retardation, autism, and mosaicism of ring chromosome 17 and chromosome 17 monosomy. The extent of genetic material deleted from the ring chromosome was determined using a combination of classical cytogenetics, fluorescence in situ hybridization (FISH) and multiplex ligation-dependent probe amplification (MLPA) to...

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PMID: 17163520
DOI: 10.1002/ajmg.a.31569

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