Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

TLDR

The study aimed to describe the clinical spectrum of 558 patients with deletions in the DiGeorge syndrome critical region of chromosome 22q11. Clinical data were collected from 558 patients across Europe, encompassing genetic, cardiac, immunologic, and developmental assessments. Among these patients, 28 % of tested parents carried inherited deletions (61 % maternal, 18 % paternal), 8 % died (most within a month of birth, mainly from congenital heart disease), 9 % had cleft palate, 32 % had velopharyngeal insufficiency, 60 % were hypocalcaemic, 75 % had cardiac problems, 36 % had renal abnormalities, 62 % of survivors were developmentally normal or mildly impaired, and 36 % were below the 3rd centile for height or weight.

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.