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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.

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Authors+Show Affiliations

Clementi M
Dipartimento di Pediatria, Università di Padova, Italy.
Tenconi R
No affiliation info available
Turolla L
No affiliation info available
Silvan C
No affiliation info available
Bortotto L
No affiliation info available
Artifoni L
No affiliation info available

MeSH

Abnormalities, MultipleChild, PreschoolChoanal AtresiaChromosome AberrationsChromosome DisordersChromosomes, Human, Pair 2Chromosomes, Human, Pair 22Chromosomes, Human, Pair 3DwarfismFemaleHeart Defects, CongenitalHumansImmunologic Deficiency SyndromesInfantIntellectual DisabilityLeukocyte CountMalePhenotypeSyndromeT-Lymphocyte SubsetsTranslocation, Genetic

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 -