RT Journal Article
SR Electronic
T1 Multiple abnormalities in a child with partial duplications of 10p and 13q from a 3:1 segregation of a maternal t(10;13) translocation.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 188
OP 191
DO 10.1136/jmg.27.3.188
VO 27
IS 3
A1 Yip, M Y
A1 Williams, J
A1 Goddard, A
A1 Campbell, P
A1 Lambert, I
A1 Smithells, R W
YR 1990
UL http://jmg.bmj.com/content/27/3/188.abstract
AB 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.