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

    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.

    https://doi.org/10.1136/jmg.27.3.188

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