SPECTRUM OF CLINICAL-FEATURES ASSOCIATED WITH INTERSTITIAL CHROMOSOME22Q11 DELETIONS - A EUROPEAN COLLABORATIVE STUDY

We present clinical data on 558 patients with deletions within the DiG eorge syndrome critical region of chromosome 22q11. Twenty-eight perce nt 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 the se within a month of birth and the majority within 6 months. All but o ne of the deaths were the result of congenital heart disease. Clinical ly 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 prob lems, and 36% of patients had cardiac problems, and 36% of patients wh o had abdominal ultrasound had a renal abnormality. Sixty-two percent of surviving patients were developmentally normal or had only mild lea rning problems. The majority of patients were constitutionally small, with 36% of patients below the 3rd centile for either height or weight parameters.