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. 1997 Oct;34(10):798–804. doi: 10.1136/jmg.34.10.798

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

A K Ryan 1, J A Goodship 1, D I Wilson 1, N Philip 1, A Levy 1, H Seidel 1, S Schuffenhauer 1, H Oechsler 1, B Belohradsky 1, M Prieur 1, A Aurias 1, F L Raymond 1, J Clayton-Smith 1, E Hatchwell 1, C McKeown 1, F A Beemer 1, B Dallapiccola 1, G Novelli 1, J A Hurst 1, J Ignatius 1, A J Green 1, R M Winter 1, L Brueton 1, K Brøndum-Nielsen 1, P J Scambler 1, et al.
PMCID: PMC1051084  PMID: 9350810

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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Selected References

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