RT Journal Article SR Electronic T1 Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 798 OP 804 DO 10.1136/jmg.34.10.798 VO 34 IS 10 A1 A K Ryan A1 J A Goodship A1 D I Wilson A1 N Philip A1 A Levy A1 H Seidel A1 S Schuffenhauer A1 H Oechsler A1 B Belohradsky A1 M Prieur A1 A Aurias A1 F L Raymond A1 J Clayton-Smith A1 E Hatchwell A1 C McKeown A1 F A Beemer A1 B Dallapiccola A1 G Novelli A1 J A Hurst A1 J Ignatius A1 A J Green A1 R M Winter A1 L Brueton A1 K Brøndum-Nielsen A1 P J Scambler YR 1997 UL http://jmg.bmj.com/content/34/10/798.abstract AB 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.