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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
1999-9-28
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pubmed:abstractText |
A submicroscopic deletion of chromosome 22q11.2 has been identified in the majority of patients with the DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and in some patients with isolated conotruncal cardiac anomalies, Opitz G/BBB syndrome, and Cayler cardiofacial syndrome. We have evaluated 181 patients with this deletion. We describe our cohort of patients, how they presented, and what has been learned by having the same subspecialists evaluate all of the children. The results help define the extremely variable phenotype associated with this submicroscopic deletion and will assist clinicians in formulating a management plan based on these findings.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:issn |
1090-6576
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pubmed:author |
pubmed-author:BinghamPP,
pubmed-author:ClarkB JBJ3rd,
pubmed-author:CohenAA,
pubmed-author:DriscollDD,
pubmed-author:EicherPP,
pubmed-author:EmanuelB SBS,
pubmed-author:GerdesMM,
pubmed-author:GoldmuntzEE,
pubmed-author:KeenanGG,
pubmed-author:LaRossaDD,
pubmed-author:LynchDD,
pubmed-author:MarkowitzRR,
pubmed-author:McDonald-McGinnD MDM,
pubmed-author:MingJ EJE,
pubmed-author:MoshangTT,
pubmed-author:MossEE,
pubmed-author:PasquariellaBB,
pubmed-author:RandallPP,
pubmed-author:SchultzPP,
pubmed-author:SolowNN,
pubmed-author:SullivanKK,
pubmed-author:WandSS,
pubmed-author:WeinzimerSS,
pubmed-author:ZackaiE HEH
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pubmed:issnType |
Print
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pubmed:volume |
1
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
99-108
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:10464633-Abnormalities, Multiple,
pubmed-meshheading:10464633-Adolescent,
pubmed-meshheading:10464633-Adult,
pubmed-meshheading:10464633-Child,
pubmed-meshheading:10464633-Child, Preschool,
pubmed-meshheading:10464633-Chromosome Deletion,
pubmed-meshheading:10464633-Chromosomes, Human, Pair 22,
pubmed-meshheading:10464633-Cleft Palate,
pubmed-meshheading:10464633-Cohort Studies,
pubmed-meshheading:10464633-DiGeorge Syndrome,
pubmed-meshheading:10464633-Face,
pubmed-meshheading:10464633-Female,
pubmed-meshheading:10464633-Genetic Testing,
pubmed-meshheading:10464633-Heart Defects, Congenital,
pubmed-meshheading:10464633-Humans,
pubmed-meshheading:10464633-Infant,
pubmed-meshheading:10464633-Male,
pubmed-meshheading:10464633-Phenotype,
pubmed-meshheading:10464633-Syndrome
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pubmed:year |
1997
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pubmed:articleTitle |
The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients.
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pubmed:affiliation |
Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, PA 19104, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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