Abstract
We report the first case of maternal uniparental disomy of chromosome 14 in humans. The male proband inherited a balanced 13;14 Robertsonian translocation from his mother. Molecular studies showed that neither chromosome 14 was of paternal origin. The proband is of above average intelligence, but he has hydrocephalus, a bifid uvula, premature puberty, short stature, and small testes. It is not known if the clinical findings are related or coincidental to the uniparental disomy.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Carpenter N. J., Say B., Barber N. D. A homozygote for pericentric inversion of chromosome 4. J Med Genet. 1982 Dec;19(6):469–471. doi: 10.1136/jmg.19.6.469. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Cattanach B. M., Kirk M. Differential activity of maternally and paternally derived chromosome regions in mice. Nature. 1985 Jun 6;315(6019):496–498. doi: 10.1038/315496a0. [DOI] [PubMed] [Google Scholar]
- Cattanach B. M. Parental origin effects in mice. J Embryol Exp Morphol. 1986 Oct;97 (Suppl):137–150. [PubMed] [Google Scholar]
- Cox D. W., Donlon T. A. Report of the committee on the genetic constitution of chromosomes 14 and 15. Cytogenet Cell Genet. 1989;51(1-4):280–298. doi: 10.1159/000132795. [DOI] [PubMed] [Google Scholar]
- Engel E. A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am J Med Genet. 1980;6(2):137–143. doi: 10.1002/ajmg.1320060207. [DOI] [PubMed] [Google Scholar]
- Kirkels V. G., Hustinx T. W., Scheres J. M. Habitual abortion and translocation (22q;22q): unexpected transmission from a mother to her phenotypically normal daughter. Clin Genet. 1980 Dec;18(6):456–461. doi: 10.1111/j.1399-0004.1980.tb01794.x. [DOI] [PubMed] [Google Scholar]
- Malcolm S., Clayton-Smith J., Nichols M., Robb S., Webb T., Armour J. A., Jeffreys A. J., Pembrey M. E. Uniparental paternal disomy in Angelman's syndrome. Lancet. 1991 Mar 23;337(8743):694–697. doi: 10.1016/0140-6736(91)90278-w. [DOI] [PubMed] [Google Scholar]
- Nicholls R. D., Knoll J. H., Butler M. G., Karam S., Lalande M. Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature. 1989 Nov 16;342(6247):281–285. doi: 10.1038/342281a0. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Palmer C. G., Schwartz S., Hodes M. E. Transmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter. Clin Genet. 1980 Jun;17(6):418–422. doi: 10.1111/j.1399-0004.1980.tb00173.x. [DOI] [PubMed] [Google Scholar]
- Ropers H. H., Craig I. W. Report of the committee on the genetic constitution of chromosomes 12 and 13. Cytogenet Cell Genet. 1989;51(1-4):259–279. doi: 10.1159/000132794. [DOI] [PubMed] [Google Scholar]
- Searle A. G., Peters J., Lyon M. F., Hall J. G., Evans E. P., Edwards J. H., Buckle V. J. Chromosome maps of man and mouse. IV. Ann Hum Genet. 1989 May;53(Pt 2):89–140. doi: 10.1111/j.1469-1809.1989.tb01777.x. [DOI] [PubMed] [Google Scholar]
- Spence J. E., Perciaccante R. G., Greig G. M., Willard H. F., Ledbetter D. H., Hejtmancik J. F., Pollack M. S., O'Brien W. E., Beaudet A. L. Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet. 1988 Feb;42(2):217–226. [PMC free article] [PubMed] [Google Scholar]
- Voss R., Ben-Simon E., Avital A., Godfrey S., Zlotogora J., Dagan J., Tikochinski Y., Hillel J. Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans? Am J Hum Genet. 1989 Sep;45(3):373–380. [PMC free article] [PubMed] [Google Scholar]
- Warburton D. Uniparental disomy: a rare consequence of the high rate of aneuploidy in human gametes. Am J Hum Genet. 1988 Feb;42(2):215–216. [PMC free article] [PubMed] [Google Scholar]