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 Ryan, A K
A1 Goodship, J A
A1 Wilson, D I
A1 Philip, N
A1 Levy, A
A1 Seidel, H
A1 Schuffenhauer, S
A1 Oechsler, H
A1 Belohradsky, B
A1 Prieur, M
A1 Aurias, A
A1 Raymond, F L
A1 Clayton-Smith, J
A1 Hatchwell, E
A1 McKeown, C
A1 Beemer, F A
A1 Dallapiccola, B
A1 Novelli, G
A1 Hurst, J A
A1 Ignatius, J
A1 Green, A J
A1 Winter, R M
A1 Brueton, L
A1 Brøndum-Nielsen, K
A1 Scambler, P J
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.