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

• Type: Article in International Scientific Journal
• Date: 2015

Authors

Jorge, R (Author) Other; Silva, C (Author) Other; Agueda, S (Author) Other; doria, s (Author) FMUP; Leao, M (Author) Other

Journal

Title: American Journal of Medical Genetics, Part A

Vol. 167

Pages: 2839-2843

ISSN: 1552-4825

Publisher: Wiley-Blackwell

Indexing

ISI Web of Knowledge - 7 Citations

Scopus - 8 Citations

Other information

Authenticus ID: 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 5