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Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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Intellectual disability and overgrowth-A new case of 19p13.13 microdeletion syndrome with digital abnormalities
Rita Jorge1, Carmen Silva1, Sofia Águeda1
1Department of Paediatrics, São João Hospital Centre, Porto, Portugal.
Abstract:
19p13.13 microdeletion has been consistently associated with intellectual disability, overgrowth, and macrocephaly. We report a 19p13.13 microdeletion, detected by array CGH, in a girl with moderate intellectual disability, overgrowth with macrocephaly, prominent digit pads and deep digital creases, hypotonia, ataxia, and strabismus. This clinical report helps to delineate the role of some of the deleted genes, as well as the phenotype of recently described 19p13.13 microdeletion syndrome, including the description of novel digital abnormalities.
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