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• W2147054920 abstract "Two syndromes with abnormalities of the short arm of chromosome 5 have been described: cri-du-chat (resulting from 5p deletion) and trisomy 5p. We report for the first time a patient with both syndromes, resulting from a complex chromosomal rearrangement with an inverted duplication of 5p13.1-p14.2, a deletion of 5p14.2-pter, and a duplication of 5p12, characterized by array-CGH and BAC clones. The patient showed phenotypic characteristics of both syndromes and died at 3 months of age as a result of cardiorespiratory failure, probably associated with the clinical severity of the trisomy 5p syndrome. We propose a potential causative mechanism for this rearrangement. © 2009 Wiley-Liss, Inc." @default.
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• W2147054920 date "2009-11-01" @default.
• W2147054920 modified "2023-10-17" @default.
• W2147054920 title "Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes" @default.
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• W2147054920 doi "https://doi.org/10.1002/ajmg.a.33055" @default.
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