dup(4p 15→4pter) in a 19-year-old woman resulting from a maternal 4;14 translocation

1 January 1982

journal article
case report
Published by Wiley in American Journal of Medical Genetics

Vol. 11 (1) , 37-42
https://doi.org/10.1002/ajmg.1320110106

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.

Keywords

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