Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. (original) (raw)
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
- A K Ryan,
- J A Goodship,
- D I Wilson,
- N Philip,
- A Levy,
- H Seidel,
- S Schuffenhauer,
- H Oechsler,
- B Belohradsky,
- M Prieur,
- A Aurias,
- F L Raymond,
- J Clayton-Smith,
- E Hatchwell,
- C McKeown,
- F A Beemer,
- B Dallapiccola,
- G Novelli,
- J A Hurst,
- J Ignatius,
- A J Green,
- R M Winter,
- L Brueton,
- K Brøndum-Nielsen,
- P J Scambler
- Department of Human Genetics, University of Newcastle upon Tyne, UK.
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.
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