Multiple abnormalities in a child with partial duplications of 10p and 13q from a 3:1 segregation of a maternal t(10;13) translocation

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...

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Veröffentlicht in:Journal of medical genetics 1990-03, Vol.27 (3), p.188-191
Hauptverfasser: Yip, M Y, Williams, J, Goddard, A, Campbell, P, Lambert, I, Smithells, R W
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Sprache:eng
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Zusammenfassung: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.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.27.3.188