title: Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
abstract: We present clinical data on 558 patients with deletions within the DiGeorge syndrome critical region of chromosome 22q11. Twenty-eight percent of the cases where parents had been tested had inherited deletions, with a marked excess of maternally inherited deletions (maternal 61, paternal 18). Eight percent of the patients had died, over half of these within a month of birth and the majority within 6 months. All but one of the deaths were the result of congenital heart disease. Clinically significant immunological problems were very uncommon. Nine percent of patients had cleft palate and 32% had velopharyngeal insufficiency, 60% of patients were hypocalcaemic, 75% of patients had cardiac problems, and 36% of patients who had abdominal ultrasound had a renal abnormality. Sixty-two percent of surviving patients were developmentally normal or had only mild learning problems. The majority of patients were constitutionally small, with 36% of patients below the 3rd centile for either height or weight parameters.
authors.affiliation: Department of Human Genetics, University of Newcastle upon Tyne, UK.
authors.forename: A K
authors.initials: AK
authors.lastname: Ryan
authors.forename: J A
authors.initials: JA
authors.lastname: Goodship
authors.forename: D I
authors.initials: DI
authors.lastname: Wilson
authors.forename: N
authors.initials: N
authors.lastname: Philip
authors.forename: A
authors.initials: A
authors.lastname: Levy
authors.forename: H
authors.initials: H
authors.lastname: Seidel
authors.forename: S
authors.initials: S
authors.lastname: Schuffenhauer
authors.forename: H
authors.initials: H
authors.lastname: Oechsler
authors.forename: B
authors.initials: B
authors.lastname: Belohradsky
authors.forename: M
authors.initials: M
authors.lastname: Prieur
authors.forename: A
authors.initials: A
authors.lastname: Aurias
authors.forename: F L
authors.initials: FL
authors.lastname: Raymond
authors.forename: J
authors.initials: J
authors.lastname: Clayton-Smith
authors.forename: E
authors.initials: E
authors.lastname: Hatchwell
authors.forename: C
authors.initials: C
authors.lastname: McKeown
authors.forename: F A
authors.initials: FA
authors.lastname: Beemer
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: G
authors.initials: G
authors.lastname: Novelli
authors.forename: J A
authors.initials: JA
authors.lastname: Hurst
authors.forename: J
authors.initials: J
authors.lastname: Ignatius
authors.forename: A J
authors.initials: AJ
authors.lastname: Green
authors.forename: R M
authors.initials: RM
authors.lastname: Winter
authors.forename: L
authors.initials: L
authors.lastname: Brueton
authors.forename: K
authors.initials: K
authors.lastname: Brøndum-Nielsen
authors.forename: P J
authors.initials: PJ
authors.lastname: Scambler
mesh_terms: D000293:Adolescent; D000328:Adult; D001519:Behavior; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics* / Q000276:immunology / Q000503:physiopathology / Q000523:psychology; D005060:Europe; D005260:Female; D006309:Hearing; D006331:Heart Diseases / Q000151:congenital; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009056:Mouth Abnormalities; D009422:Nervous System Diseases; D010280:Parathyroid Glands / Q000503:physiopathology; D010641:Phenotype; D014564:Urogenital Abnormalities