Maternal uniparental disomy for chromosome 14.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 1681108.
- Also identified by PMC identifier 1016977.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
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.
Medical subject headings
- Chromosome Aberrations
- Chromosomes, Human, Pair 14
- Translocation, Genetic