title: Multiple abnormalities in a child with partial duplications of 10p and 13q from a 3:1 segregation of a maternal t(10;13) translocation.
abstract: Partial duplications of 10p and 13q in association with partial deletions of other chromosome segments have been variously reported. We describe here a female child with multiple congenital abnormalities and combined partial duplications of 10p and 13q resulting from a 3:1 segregation of a maternal t(10;13)(p13;q22). In comparing the phenotypic features of the two chromosome imbalances, the expression of features typical of partial duplication 10p appeared more pronounced.
authors.affiliation: Cytogenetics and Cell Biology Unit, Prince of Wales Hospital, Sydney, NSW, Australia.
authors.forename: M Y
authors.initials: MY
authors.lastname: Yip
authors.forename: J
authors.initials: J
authors.lastname: Williams
authors.forename: A
authors.initials: A
authors.lastname: Goddard
authors.forename: P
authors.initials: P
authors.lastname: Campbell
authors.forename: I
authors.initials: I
authors.lastname: Lambert
authors.forename: R W
authors.initials: RW
authors.lastname: Smithells
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000782:Aneuploidy; D002871:Chromosome Banding; D002879:Chromosomes, Human, Pair 10; D002882:Chromosomes, Human, Pair 13; D003434:Crossing Over, Genetic; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic