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Case Reports
. 1991 Aug;28(8):511-4.
doi: 10.1136/jmg.28.8.511.

Maternal uniparental disomy for chromosome 14

I K Temple  1 , A Cockwell, T Hassold, D Pettay, P Jacobs
Affiliations
Case Reports

Maternal uniparental disomy for chromosome 14

I K Temple et al. J Med Genet. 1991 Aug.

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.

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References

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