%0 Journal Article %A I K Temple %A A Cockwell %A T Hassold %A D Pettay %A P Jacobs %T Maternal uniparental disomy for chromosome 14. %D 1991 %R 10.1136/jmg.28.8.511 %J Journal of Medical Genetics %P 511-514 %V 28 %N 8 %X 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. %U https://jmg.bmj.com/content/jmedgenet/28/8/511.full.pdf