Title
Deletion 22q11: spectrum of associated disorders
UMMS Affiliation
Department of Pediatrics
Publication Date
2007-09-06
Document Type
Article
Subjects
*Chromosome Deletion; Chromosomes, Human, Pair 22; DiGeorge Syndrome; Humans
Disciplines
Genetics and Genomics | Medical Genetics | Pediatrics
Abstract
Velocardiofacial syndrome, also called Shprintzen syndrome or DiGeorge sequence, is one of the most common genetic disorders in humans. Caused by a microdeletion on chromosome 22, it manifests in a remarkable variety of symptoms in multiple systems. The most frequent anomalies involve palatal function, facial features and congenital cardiac defects. In addition, learning disabilities and psychiatric issues are common. The aim of this article is to provide a concise review of the clinical characteristics of this complex disorder. Recognition of the features associated with velocardiofacial syndrome allows for an inclusive diagnosis and more comprehensive care.
DOI of Published Version
10.1016/j.spen.2007.07.005
Source
Semin Pediatr Neurol. 2007 Sep;14(3):136-9. Link to article on publisher's site
Journal/Book/Conference Title
Seminars in pediatric neurology
Related Resources
PubMed ID
17980310
Repository Citation
Hay, Beverly N., "Deletion 22q11: spectrum of associated disorders" (2007). Genetics. 10.
https://escholarship.umassmed.edu/peds_genetics/10