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Am J Hum Genet. 1992 Nov;51(5):957-63.

A prospective cytogenetic study of 36 cases of DiGeorge syndrome.

Author information

1
Division of Human Genetics, University of Newcastle upon Tyne, U.K.

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.

PMID:
1415264
PMCID:
PMC1682842
[Indexed for MEDLINE]
Free PMC Article

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