| Literature DB >> 7065001 |
C E Clark, M A Telfer, H R Cowell, A Kalamchi, N L Steg.
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.Entities:
Mesh：
Year: 1982 PMID： 7065001 DOI： 10.1002/ajmg.1320110106
Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299