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Article

Maternal uniparental disomy for chromosome 14.

1 Aug 1991

Abstract excerpt

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...

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Identifiers

PMID: 1681108
DOI: 10.1136/jmg.28.8.511

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