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 ?
Based on insights from Company data, Zynerba conducted a retrospective literature review on patients with autism spectrum disorder, FXS, and 22q11.2 deletion syndrome to determine the symptomatic overlap between these disorders and to determine a possible role for cannabidiol (CBD) in managing the spectrum of behavioral symptoms associated with these conditions.
Zynerba Pharmaceuticals Announces Poster Presentations at the 22nd Society for the Study of Behavioural Phenotypes Symposium
Understanding the cardiac and extra-cardiac anomalies that accompany CHARGE syndrome, 22q11.2 deletion syndrome, and VACTERL association can have a profound impact on the medical management and outcomes of infants and children diagnosed with these defects.
Nursing Care of Infants and Children With Congenital Heart Disease and Associated Genetic Conditions
Identifying patterns of anxiety and depression in children with chromosome 22q11.2 deletion syndrome: Comorbidity predicts behavioral difficulties and impaired functional communications.
The Quality of Life and Mental Health in Children with Primary Immunodeficiency
Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome. Dev Disabil Res Rev [serial online].
Early-onset psychosis in an adolescent with DiGeorge syndrome: A case report
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 22q11.2 deletion syndrome.
ICE OLLY; COOL CUSTOMER A BRAVE BOY DEFIES PAIN FOR HIS SPORT; Family tell how seven-year-old was transformed by his passion
At this time, clinicians should be alerted about the chance to detect 22q11.2 deletions in patients with early-onset PD or possessing clinical features which are typically associated with the chromosome 22q11.2 deletion syndrome or both.
Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease
Panorama's unique technology enables it to determine zygosity and each twin's gender while also allowing it to identify risk for more genetic conditions in twin pregnancies than other NIPTs, including monosomy X, sex chromosome trisomies, and 22q11.2 deletion syndrome.
NIPT SCREENING FOR TWIN ZYGOSITY AND GENETIC RISK FACTORS
Caption: GOOD CHEER: Gianna (left) has 22q11.2 deletion syndrome, but is always enthusiastic and her favorite activity is cheering; Ellie Kemper (right) will appear at the release party for "An Ordinary Day."
BOOK RELEASE PARTY FOR "AN ORDINARY DAY"
The study, published in Clinical Genetics, retrospectively analyzed the performance of the single-nucleotide polymorphism -based NIPT in 80,449 referrals for 22q11.2 deletion syndrome and 42,326 referrals for 1p36, cri-du-chat, Prader-Willi, and Angelman microdeletion syndromes over a one-year period.
Natera Study Shows High Accuracy of Panorama Prenatal Screen in Identifying DNA Microdeletions
This is especially beneficial in the screening of diseases associated with the deletion/duplication of small chromosomal regions, such as 22q11.2 deletion syndrome (also known as the DiGeorge/velocardiofacial syndrome) which results from the heterozygous deletion of a region smaller than 3 Mb (28) and occurs in 1/4000 live births (29).
Noninvasive Prenatal Screening of Fetal Aneuploidy without Massively Parallel Sequencing
Tucker, "A defect in early myogenesis causes Otitis media in two mouse models of 22q11.2 deletion syndrome," Human Molecular Genetics, vol.
Identification of a Novel ENU-Induced Mutation in Mouse Tbx1 Linked to Human DiGeorge Syndrome
Sullivan, "T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome," Blood, vol.
Modulating Neuroinflammation to Treat Neuropsychiatric Disorders

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