Intellectual disability and overgrowthA new case of 19p13.13 microdeletion syndrome with digital abnormalities

• Tipo: Artigo em Revista Científica Internacional
• Data: 2015

Autores

Jorge, R (Autor) Outra; Silva, C (Autor) Outra; Agueda, S (Autor) Outra; doria, s (Autor) FMUP; Leao, M (Autor) Outra

Revista

Título: American Journal of Medical Genetics, Part A

Vol. 167

Páginas: 2839-2843

ISSN: 1552-4825

Editora: Wiley-Blackwell

Indexação

ISI Web of Knowledge - 7 Citações

Scopus - 8 Citações

Outras Informações

ID Authenticus: P-00G-SR6

DOI: 10.1002/ajmg.a.37280

Abstract (EN): 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. (c) 2015 Wiley Periodicals, Inc.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 5