A prospective cytogenetic study of 36 cases of DiGeorge syndrome.

Wilson, D I; Cross, I E; Goodship, J A; Brown, J; Scambler, P J; Bain, H H; Taylor, J F; Walsh, K et al. · Am J Hum Genet · 1992

prospective_cohort · Level II

Where this comes from

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.

Medical subject headings