A prospective cytogenetic study of 36 cases of DiGeorge syndrome |
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| Authors: | D I Wilson I E Cross J A Goodship J Brown P J Scambler H H Bain J F N Taylor K Walsh A Bankier J Burn and J Wolstenholme |
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| Institution: | Division of Human Genetics, University of Newcastle upon Tyne, U.K. |
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| 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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