Chromosome 22q11.2 microdeletion syndrome.
Chromosome 22q11.2 microdeletion syndrome is the most common microdeletion syndrome in humans. It involves the loss of genetic material on the short arm of one of the chromosome 22 alleles. Until advanced testing was available, this syndrome was known by various names including DiGeorge syndrome and...
| Publicado en: | Neonatal Network Vol. 30; no. 5; pp. 304 - 312 |
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| Autor principal: | |
| Formato: | pictorial Journal Article |
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Springer Publishing Company, Inc.
Sep/Oct2011
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=108254586&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 108254586 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 07300832 4EH jtl: Neonatal Network issn: 07300832 maglogo: N pubinfo: dt: Sep/Oct2011 vid: 30 iid: 5 pid: 8953 pub: Springer Publishing Company, Inc. place: New York, New York artinfo: ui: 108254586 65531361 2011258903 10.1891/0730-0832.30.5.304 NLM21846625 108254586 ppf: 304 ppct: 8 formats: tig: atl: Chromosome 22q11.2 microdeletion syndrome. aug: au: Molesky, Marion G sug: subj: Chromosomes DiGeorge Syndrome Cleft Palate Diagnosis, Differential DiGeorge Syndrome Diagnosis DiGeorge Syndrome Epidemiology DiGeorge Syndrome Physiopathology DiGeorge Syndrome Therapy Incidence Infant Feeding Infant, Newborn Phenotype Infant, Newborn: birth-1 month ab: Chromosome 22q11.2 microdeletion syndrome is the most common microdeletion syndrome in humans. It involves the loss of genetic material on the short arm of one of the chromosome 22 alleles. Until advanced testing was available, this syndrome was known by various names including DiGeorge syndrome and velo-cardio-facial syndrome. This syndrome has a varied presentation with significant abnormalities including congenital heart disease, hypocalcemia, immunologic deficiencies, learning disabilities, and behavioral problems. A multidisciplinary approach is required to diagnose and manage the varied manifestations. pubtype: Academic Journal doctype: pictorial Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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