Maternal uniparental disomy for chromosome 14.
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.
Temple
I K
IK
Department of Child Health, University of Southampton.
Cockwell
A
A
Hassold
T
T
Pettay
D
D
Jacobs
P
P
D015139:Blotting, Southern; D002869:Chromosome Aberrations; D002883:Chromosomes, Human, Pair 14; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D011629:Puberty, Precocious / Q000235:genetics; D013737:Testis / Q000002:abnormalities; D014178:Translocation, Genetic / Q000235:genetics*