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  • Title: A prospective cytogenetic study of 36 cases of DiGeorge syndrome.
    Author: Wilson DI, Cross IE, Goodship JA, Brown J, Scambler PJ, Bain HH, Taylor JF, Walsh K, Bankier A, Burn J.
    Journal: Am J Hum Genet; 1992 Nov; 51(5):957-63. PubMed ID: 1415264.
    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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