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Clementi M, Tenconi R, Turolla L, et al. Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome. Am J Med Genet. 1991;41(2):246-50doi: 10.1002/ajmg.1320410223.
Clementi, M., Tenconi, R., Turolla, L., Silvan, C., Bortotto, L., & Artifoni, L. (1991). Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome. American journal of medical genetics, 41(2), 246-50. https://doi.org/10.1002/ajmg.1320410223
Clementi, M, et al. "Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome." American journal of medical genetics vol. 41,2 (1991): 246-50. doi: https://doi.org/10.1002/ajmg.1320410223
Clementi M, Tenconi R, Turolla L, Silvan C, Bortotto L, Artifoni L. Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome. Am J Med Genet. 1991 Nov 01;41(2):246-50. doi: 10.1002/ajmg.1320410223. PMID: 1785643.
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Am J Med Genet. 1991 Nov 01;41(2):246-50. doi: 10.1002/ajmg.1320410223.

Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome.

American journal of medical genetics

M Clementi, R Tenconi, L Turolla, C Silvan, L Bortotto, L Artifoni

Affiliations

  1. Dipartimento di Pediatria, Università di Padova, Italy.

PMID: 1785643 DOI: 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 patients 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.

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