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 ?
The family, with the help of fellow ice hockey fans, have raised hundreds of pounds for the Max Appeal, a charity who support the families of children like Olly and help to fund vital research into 22q11.
The prevalence in the referral population was estimated to be 1 in 1,255 for 22q11.
NFC-1 also has the potential to help the thousands of patients around the world with a rare and severe genetic disorder known as 22q11.
Atypical development of the executive attention network in children with chromosome 22q11.
An examination of the relationship of anxiety and intelligence to adaptive functioning in children with chromosome 22q11.
Sullivan, "T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.
Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.
Gothelf and associates studied patients with velocardiofacial syndrome, which also is called the 22q11.
Caption: GOOD CHEER: At just 20 weeks, while in utero, Gianna was diagnosed with 22q11.
List of common genetic disorders Syndrome Mutation Type Chromosome DiGeorge syndrome or Deletion 22q 22q11.