Brief clinical report: dup(4p15 leads to 4pter) in a 19-year-old woman resulting from a maternal 4;14 translocation.
We describe a 19-year-old woman who has a duplication of 4p. The karyotype is 46,XX, - 14, + der(14),t(4;14) (p15;p12)mat in lymphocytes and skin fibroblasts. The patient has coarse hair, prominent forehead and tip of nose, coloboma, scoliosis, and mental retardation.
D000015:Abnormalities, Multiple / Q000209:etiology; D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002901:Chromosomes, Human, 13-15 / Q000648:ultrastructure*; D002905:Chromosomes, Human, 4-5 / Q000648:ultrastructure*; D002906:Chromosomes, Human, 6-12 and X / Q000648:ultrastructure; D003103:Coloboma / Q000209:etiology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D007498:Iris / Q000002:abnormalities; D010375:Pedigree; D014178:Translocation, Genetic