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
References in periodicals archive ?
With the Enhanced Sequencing Series, the test will begin reporting on select, clinically relevant microdeletions, including 22q11.
A relatively common genetic disorder, chromosome 22q11.
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.
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.
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.
The Hospital also is a world leader in studying and treating children with chromosome 22q11.