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
Mentioned in ?
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.
ICE OLLY; COOL CUSTOMER A BRAVE BOY DEFIES PAIN FOR HIS SPORT; Family tell how seven-year-old was transformed by his passion
The prevalence in the referral population was estimated to be 1 in 1,255 for 22q11.
Natera Study Shows High Accuracy of Panorama Prenatal Screen in Identifying DNA Microdeletions
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.
Medgenics Acquires ADHD Drug Developer NeuroFix Therapeutics
Cognitive, behavioural and psychiatric phenotype in 22q11.
Characterization of behavior profile and social competence of individuals with the del22q11.2 syndrome/Caracterizacao do perfil comportamental e de competencia social de individuos com a sindrome del22q11.2
Atypical development of the executive attention network in children with chromosome 22q11.
El sindrome 22q11.2D S como un subtipo genetico de esquizofrenia
An examination of the relationship of anxiety and intelligence to adaptive functioning in children with chromosome 22q11.
Screening newborn blood spots for 22q11.2 deletion syndrome using multiplex droplet digital PCR
Sullivan, "T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.
Case report: DiGeorge syndrome presenting with hypoparathyrodism and learning difficulties in adulthood
Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.
Analisis de microdeleciones en 22qll en pacientes colombianos con cardiopatia congenita no sindromica
Keywords: intellectual disability, velocardiofacial, psychiatric disorder, Di George, 22q11.
Velocardiofacial syndrome in intellectual disability: borderline personality disorder behavioral phenotype and treatment with clozapine--a case report
Gothelf and associates studied patients with velocardiofacial syndrome, which also is called the 22q11.
Allele worsens symptoms in high-risk patients
Caption: GOOD CHEER: At just 20 weeks, while in utero, Gianna was diagnosed with 22q11.
Moments captured in the lives of extraordinary families raising children with rare diseases
List of common genetic disorders Syndrome Mutation Type Chromosome DiGeorge syndrome or Deletion 22q 22q11.
Applications of nucleic acid testing in diagnosis and therapy

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