Multiple abnormalities in a child with partial duplications of 10p and 13q from a 3:1 segregation of a maternal t(10;13) translocation.
Open Access
- 1 March 1990
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 27 (3) , 188-191
- https://doi.org/10.1136/jmg.27.3.188
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.Keywords
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