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.
Department of Child Health, University of Southampton.
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Temple
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Cockwell
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Hassold
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Pettay
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Jacobs
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*