Multiple abnormalities in a child with partial duplications of 10p and 13q from a 3:1 segregation of a maternal t(10;13) translocation. Issue 3 (March 1990)

• Record Type: Journal Article
• Authors: Yip, M Y; Williams, J; Goddard, A; Campbell, P; Lambert, I; Smithells, R W
• Is Part Of: Journal of medical genetics. Volume 27:Issue 3(1990)
• Page Start: 188
• Page End: 191
• Publication Date: 1990-03
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.27.3.188
• Languages: English
• ISSNs: 1468-6244

Abstract

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.