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Article

Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation.

European journal of medical genetics - 1 Apr 2012

Piccione Maria, Piro Ettore, Serraino Francesca, Cavani Simona, Ciccone Roberto, Malacarne Michela, Pierluigi Mauro, Vitaloni Marianna, Zuffardi Orsetta, Corsello Giovanni

Abstract excerpt

UNLABELLED: We report two individuals with developmental delay and dysmorphic features, in whom array-based comparative genomic hybridization (array CGH) led to the identification of a 2p15p16.1 de novo deletion. In the first patient (Patient 1) a familial deletion of 6q12, inherited from her father, was also detected. In the second patient (Patient 2) in addition to the 2p15p16.1 microdeletion a de novo deletion...

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Share to Abnormalities, Multiple
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22406401
DOI: 10.1016/j.ejmg.2012.01.014

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