Multiple abnormalities in a child with partial duplications of 10p and 13q from a 3:1 segregation of a maternal t(10;13) translocation.
case_report · Level V
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- Record sourced from PubMed, PMID 2325093.
- Also identified by PMC identifier 1017002.
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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.
Medical subject headings
- Abnormalities, Multiple
- Aneuploidy
- Chromosomes, Human, Pair 10
- Chromosomes, Human, Pair 13
- Crossing Over, Genetic
- Translocation, Genetic