Clinical variability of partial duplication 1q: a clinical report and literature review.
A female baby with multiple congenital malformations was born to a father previously known as a carrier of reciprocal translocation, t(1;18)(q25;p11). Her chromosome constitution was 46,XX,-18,der18,t(1;18)(q25;p11)pat, namely, partial duplication 1q25----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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1 / Q000648:ultrastructure; D002887:Chromosomes, Human, Pair 18 / Q000648:ultrastructure; D004386:Duodenum / Q000002:abnormalities; D005124:Eye Abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D005810:Multigene Family; D010641:Phenotype; D014178:Translocation, Genetic