Article
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
Journal of medical genetics - 1 Oct 1997
Ryan A K, Goodship J A, Wilson D I, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond F L, Clayton-Smith J, Hatchwell E, McKeown C, Beemer F A, Dallapiccola B, Novelli G, Hurst J A, Ignatius J, Green A J, Winter R M, Brueton L, Brøndum-Nielsen K, Scambler P J
Abstract excerpt
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...
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