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Case Reports
. 1982 Jan;11(1):37-42.
doi: 10.1002/ajmg.1320110106.

Brief clinical report: dup(4p15 leads to 4pter) in a 19-year-old woman resulting from a maternal 4;14 translocation

C E Clark, M A Telfer, H R Cowell, A Kalamchi, N L Steg
Case Reports

Brief clinical report: dup(4p15 leads to 4pter) in a 19-year-old woman resulting from a maternal 4;14 translocation

C E Clark et al. Am J Med Genet. 1982 Jan.

Abstract

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.

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