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Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome.
Am J Med Genet. 1991 Nov 01; 41(2):246-50.AJ

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.

Authors+Show Affiliations

Dipartimento di Pediatria, Università di Padova, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

1785643

Citation

Clementi, M, et al. "Apparent CHARGE Association and Chromosome Anomaly: Chance or Contiguous Gene Syndrome." American Journal of Medical Genetics, vol. 41, no. 2, 1991, pp. 246-50.
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):246-50.
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.
Clementi M, et al. Apparent CHARGE Association and Chromosome Anomaly: Chance or Contiguous Gene Syndrome. Am J Med Genet. 1991 Nov 1;41(2):246-50. PubMed PMID: 1785643.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome. AU - Clementi,M, AU - Tenconi,R, AU - Turolla,L, AU - Silvan,C, AU - Bortotto,L, AU - Artifoni,L, PY - 1991/11/1/pubmed PY - 1991/11/1/medline PY - 1991/11/1/entrez SP - 246 EP - 50 JF - American journal of medical genetics JO - Am J Med Genet VL - 41 IS - 2 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/1785643/Apparent_CHARGE_association_and_chromosome_anomaly:_chance_or_contiguous_gene_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1991&volume=41&issue=2&spage=246 DB - PRIME DP - Unbound Medicine ER -