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