Multiple abnormalities in a child with partial duplications of 10p and 13q from a 3:1 segregation of a maternal t(10;13) translocation.
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.
Yip
M Y
MY
Cytogenetics and Cell Biology Unit, Prince of Wales Hospital, Sydney, NSW, Australia.
Williams
J
J
Goddard
A
A
Campbell
P
P
Lambert
I
I
Smithells
R W
RW
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