Intellectual disability and overgrowth-A new case of 19p13.13 microdeletion syndrome with digital abnormalities

American Journal of Medical Genetics. Part a
Rita JorgeMiguel Leão

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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Citations

Jun 14, 2018·Human Mutation·Manuela PrioloRaoul C Hennekam
Oct 2, 2019·Molecular Genetics & Genomic Medicine·Fernanda T BelluccoMaria Isabel Melaragno

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