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Intellectual disability and overgrowth—A new case of 19p13.13 microdeletion syndrome with digital abnormalities
Author(s) -
Jorge Rita,
Silva Carmen,
Águeda Sofia,
Dória Sofia,
Leão Miguel
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37280
Subject(s) - macrocephaly , intellectual disability , hypotonia , ataxia , medicine , microdeletion syndrome , phenotype , genetics , pediatrics , biology , gene , psychiatry
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. © 2015 Wiley Periodicals, Inc.