LD45.0
Uniparental disomies of maternal origin
Dissomias uniparentais de origem materna
CategoryDefinition
Any disease characterised by the inheritance of two homologous copies of a chromosome from the mother, and none from the father. Confirmation is by observation of identical chromosome pairs, and matching to a maternal chromosome, by genetic testing.
Index Terms
Uniparental disomies of maternal originMaternal uniparental disomy of chromosome 1Maternal uniparental disomy of chromosome 2Maternal uniparental disomy of chromosome 4Maternal uniparental disomy of chromosome 6Maternal uniparental disomy of chromosome 7Maternal uniparental disomy of chromosome 9Maternal uniparental disomy of chromosome 11Maternal uniparental disomy of chromosome 13Maternal uniparental disomy of chromosome 14Maternal uniparental disomy of chromosome 15Maternal uniparental disomy of chromosome 16Maternal uniparental disomy of chromosome 20Maternal uniparental disomy of chromosome 21Maternal uniparental disomy of chromosome 22Maternal uniparental disomy of chromosome X