Maternal uniparental disomy for chromosome 14. Issue 8 (August 1991)

• Record Type: Journal Article
• Authors: Temple, I K; Cockwell, A; Hassold, T; Pettay, D; Jacobs, P
• Is Part Of: Journal of medical genetics. Volume 28:Issue 8(1991)
• Page Start: 511
• Page End: 514
• Publication Date: 1991-08
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.28.8.511
• Languages: English
• ISSNs: 1468-6244

Abstract

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.