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. 1992 Nov;51(5):957–963.

A prospective cytogenetic study of 36 cases of DiGeorge syndrome

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, J Wolstenholme
PMCID: PMC1682842  PMID: 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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Selected References

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