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Bortotto L, Piovan E, Furlan R, et al. Chromosome imbalance, normal phenotype, and imprinting. J Med Genet. 1990;27(9):582-7doi: 10.1136/jmg.27.9.582.
Bortotto, L., Piovan, E., Furlan, R., Rivera, H., & Zuffardi, O. (1990). Chromosome imbalance, normal phenotype, and imprinting. Journal of medical genetics, 27(9), 582-7. https://doi.org/10.1136/jmg.27.9.582
Bortotto, L, et al. "Chromosome imbalance, normal phenotype, and imprinting." Journal of medical genetics vol. 27,9 (1990): 582-7. doi: https://doi.org/10.1136/jmg.27.9.582
Bortotto L, Piovan E, Furlan R, Rivera H, Zuffardi O. Chromosome imbalance, normal phenotype, and imprinting. J Med Genet. 1990 Sep;27(9):582-7. doi: 10.1136/jmg.27.9.582. PMID: 2231652; PMCID: PMC1017222.
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J Med Genet. 1990 Sep;27(9):582-7. doi: 10.1136/jmg.27.9.582.

Chromosome imbalance, normal phenotype, and imprinting.

Journal of medical genetics

L Bortotto, E Piovan, R Furlan, H Rivera, O Zuffardi

Affiliations

  1. Istituto Immunotrasfusionale, Ospedale Civile di Udine, Italy.

PMID: 2231652 PMCID: PMC1017222 DOI: 10.1136/jmg.27.9.582
Free PMC Article

Abstract

A duplication of the sub-bands 1q42.11 and 1q42.12 was found in a boy and his mother. The proband has short stature (around the 10th centile) but a normal phenotype and psychomotor development. His mother is also asymptomatic. We found 30 published cases of normal subjects with an imbalance of autosomal euchromatic material. In these cases the imbalance involved either only one G positive band or a G positive and a G negative band. Thus the absence of a phenotypic effect cannot always be ascribed to the deficiency in the G positive bands of coding DNA. Moreover, in some cases, the method of transmission of the chromosome abnormality was such that an imprinting effect could be postulated.

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