Apparent CHARGE association and chromosome anomaly: Chance or contiguous gene syndrome
- 1 November 1991
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 41 (2) , 246-250
- https://doi.org/10.1002/ajmg.1320410223
Abstract
This report concerns 2 unrelated patients with apparent CHARGE association and a chromosome abnormality, resulting from different unbalanced familial translocations involving chromosomes 2 and 18 in one family, and chromosomes 3 and 22 in the other. Although the identification of two different chromosome abnormalities might be due to chance, the observation of a long arm deletion of chromosome 22 in patient 2 and of the frequent coexistence of CHARGE association and DiGeorge anomaly raise the possibility of a contiguous gene syndrome in at least some CHARGE cases.Keywords
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