| Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). | |
| | |
MedLine Citation:
|
PMID: 21200182 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Chromosome 22q11.2 deletion syndrome is a common syndrome also known as DiGeorge syndrome and velocardiofacial syndrome. It occurs in approximately 1:4000 births, and the incidence is increasing due to affected parents bearing their own affected children. The manifestations of this syndrome cross all medical specialties, and care of the children and adults can be complex. Many patients have a mild to moderate immune deficiency, and the majority of patients have a cardiac anomaly. Additional features include renal anomalies, eye anomalies, hypoparathyroidism, skeletal defects, and developmental delay. Each child's needs must be tailored to his or her specific medical problems, and as the child transitions to adulthood, additional issues will arise. A holistic approach, addressing medical and behavioral needs, can be very helpful. |
| | |
Authors:
|
Donna M McDonald-McGinn; Kathleen E Sullivan |
Publication Detail:
|
Type: Journal Article; Review |
Journal Detail:
|
Title: Medicine Volume: 90 ISSN: 1536-5964 ISO Abbreviation: Medicine (Baltimore) Publication Date: 2011 Jan |
Date Detail:
|
Created Date: 2011-01-04 Completed Date: 2011-02-01 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 2985248R Medline TA: Medicine (Baltimore) Country: United States |
Other Details:
|
Languages: eng Pagination: 1-18 Citation Subset: AIM; IM |
Affiliation:
|
The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Animals Chromosome Deletion Chromosomes, Human, Pair 22 DiGeorge Syndrome* / diagnosis, epidemiology, genetics, immunology Disease Models, Animal Genotype Humans Mice Phenotype Prevalence |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Beyond the target pathogen: ecological effects of the hospital formulary.
Next Document: The Five-Factor Score revisited: assessment of prognoses of systemic necrotizing vasculitides based ...