Di George's syndrome

(redirected from 22q11.2 deletion syndrome)
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Di George's syndrome

[də′jȯrj·əz ‚sin‚drōm]

(medicine)

thymic aplasia

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thymic aplasia

References in periodicals archive ?

Poster title: 'Common Behavioral Features of Autism, Fragile X Syndrome, and 22q11.2 Deletion Syndrome'

Zynerba Pharmaceuticals Announces Poster Presentations at the 22nd Society for the Study of Behavioural Phenotypes Symposium

Differential diagnosis for CHARGE syndrome includes 22q11.2 deletion syndrome, VACTERL association, Goldenhar syndrome, and Kabuki syndrome (Corsten-Janssen et al., 2013; Corsten-Janssen & Scambler, 2017).

Nursing Care of Infants and Children With Congenital Heart Disease and Associated Genetic Conditions

22Q11.2 Deletion Syndrome: Behaviour Problems of Children and Adolescents and Parental Stress.

The Quality of Life and Mental Health in Children with Primary Immunodeficiency

Top-line results will be reported in the third quarter of 2019; Zynerba has expanded its pipeline with the addition of two new childhood neuropsychiatric clinical targets for ZYN002: Autism Spectrum Disorder and 22q11.2 Deletion Syndrome, a rare genetic syndrome leading to significant impairments, including neuropsychiatric disorders.

Zynerba provides update on clinical progress

Behavioral and psychiatric phenotypes in 22q11.2 deletion syndrome. J Dev Behav Pediatr [serial online].

Early-onset psychosis in an adolescent with DiGeorge syndrome: A case report

Screening for 22q11.2 deletion syndrome among patients with congenital heart defects.

Delecion 22q11.2 detectada por hibridacion in situ en 22/39 pacientes mexicanos con caracteristicas clinicas similares al sindrome velocardiofacial

And that was one of the tell-tale signs of his condition, 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

Duijff et al., "Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome," JAMA Psychiatry, vol.

Episodic Behavioural Regression in an 8-Year-Old Female: Sequelae of 22q11.2 Duplication Syndrome

The 22q11.2 deletion syndrome (22qDS), also known as Di George syndrome (DGs), is a multisystem disorder caused by a chromosomal microdeletion most commonly involving a 3 Mb segment on the long arm of chromosome 22.

Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease

Their topics include the impact of parent communication patterns on infant volubility during play with books, on the weight of phones in computing phonological word proximity, bilingual speech assessment for Maltese children, language impairment in 22q11.2 deletion syndrome: a case study from Cyprus, and local assimilation in children acquiring Farsi: a study of typical versus atypical phonological development.

Crosslinguistic Encounters in Language Acquisition: Typical and Atypical Development

For example, the most common microdeletion condition, 22q11.2 deletion syndrome, has a published incidence at birth of 1/2000, though this may be an underestimate.