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. 1992 Nov;51(5):957-63.

A prospective cytogenetic study of 36 cases of DiGeorge syndrome

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A prospective cytogenetic study of 36 cases of DiGeorge syndrome

D I Wilson et al. Am J Hum Genet. 1992 Nov.

Abstract

Cytogenetic analysis was carried out in a prospective series of 36 children with DiGeorge syndrome. High-resolution banding (> 850 bands/haploid set) was achieved in 30 cases. Monosomy 22q11.21-->q11.23 was found in 9 of these 30 cases. In each of these cases monosomy 22q11.21-->q11.23 resulted from an interstitial deletion and not from a translocation. No other chromosome abnormalities were seen.

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