Clinical variability of partial duplication 1q: A clinical report and literature review
- 1 August 1987
- journal article
- review article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 27 (4) , 787-792
- https://doi.org/10.1002/ajmg.1320270407
Abstract
A female baby with multiple congenital malformations was born to a father previously known as a carrier of reciprocal translocation, t (l;18) (q25;pll). Her chromosome constitution was 46,XX,−18,derl8,t(l;l8)(q25;pll)pat, namely, partial duplication Iq25→qter. The main manifestations were: macrocephaly, hirsutism, camptodactyly, eye defects, lymphedema, and duodenal atresia. This patient illustrates the phenotype variability expected from such a large duplication of chromosome 1.Keywords
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