| Literature DB >> 2325093 |
M Y Yip1, J Williams, A Goddard, P Campbell, I Lambert, R W Smithells.
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.Entities:
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Year: 1990 PMID: 2325093 PMCID: PMC1017002 DOI: 10.1136/jmg.27.3.188
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318