RT Journal Article SR Electronic T1 Maternal uniparental disomy for chromosome 14. JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 511 OP 514 DO 10.1136/jmg.28.8.511 VO 28 IS 8 A1 I K Temple A1 A Cockwell A1 T Hassold A1 D Pettay A1 P Jacobs YR 1991 UL http://jmg.bmj.com/content/28/8/511.abstract AB 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.