Catch-22 syndrome

(redirected from 22q11.2 deletion syndrome)
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Catch-22 syndrome

An uncommon synonym for 22q11.2 deletion syndrome, which affects 1 in 4,000 and is characterised by cleft palate, congenital heart defects, learning disabilities, and nearly 200 possible other clinical findings, including head and neck deformities.

Diagnosis
FISH

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References in periodicals archive ?

Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.

Velocardiofacial syndrome in intellectual disability: borderline personality disorder behavioral phenotype and treatment with clozapine--a case report

With the Enhanced Sequencing Series, the test will begin reporting on select, clinically relevant microdeletions, including 22q11.

Sequenom Laboratories Launches The Enhanced Sequencing Series For The MaterniT21(TM) PLUS Test

A relatively common genetic disorder, chromosome 22q11.

News Briefs from Featured Lectures at Cardiology 2012

1 microdeletion syndrome, 2 4-Dienoyl-CoA reductase deficiency, 2-hydroxyethyl methacrylate sensitization, 2-Hydroxyglutaric aciduria, 2-methyl-3-hydroxybutyric aciduria, 2-Methylacetoacetyl CoA thiolase deficiency, 2-methylbutyryl-CoA dehydrogenase deficiency, 21-hydroxylase deficiency, 22q11.

The RARE List[TM] - You Must See it to Believe it!

He recently published two studies of patients at The Children's Hospital of Philadelphia with chromosome 22q11.

Researchers have known for some time that children with chromosome 22q11.

Linking Brain to Mind in a Common Genetic Disease; -- Abnormal Brain Structure Linked to Spatial, Numerical Thinking Problems When Children Lack Part of Chromosome --

Through the compelling stories of patients and families, each one-hour episode explores Children's Hospital's cutting-edge research and treatment of some of the most devastating illnesses facing children: congenital heart disease, inflammatory bowel disease, cystic fibrosis, 22q11.

National Series Featuring The Children's Hospital of Philadelphia to Air During Primetime Hours on Discovery Health Channel

The Hospital also is a world leader in studying and treating children with chromosome 22q11.

Researcher Named to W.W. Smith Chair in Pediatric Genomics at The Children's Hospital of Philadelphia