✦ LIBER ✦
dup(4p 15→4pter) in a 19-year-old woman resulting from a maternal 4;14 translocation
✍ Scribed by Clark, Constance E. ;Telfer, Mary A. ;Cowell, Henry R. ;Kalamchi, Ali ;Steg, Nina L. ;Opitz, John M.
- Publisher
- John Wiley and Sons
- Year
- 1982
- Tongue
- English
- Weight
- 276 KB
- Volume
- 11
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
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.