A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat. Issue 1 (January 1995)

• Record Type: Journal Article
• Authors: el-Rifai, W; Leisti, J; Kähkönen, M; Pietarinen, A; Altherr, M R; Knuutila, S
• Is Part Of: Journal of medical genetics. Volume 32:Issue 1(1995)
• Page Start: 65
• Page End: 67
• Publication Date: 1995-01
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.32.1.65
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : We present here a 7 year old girl with the clinical signs of Wolf-Hirschhorn syndrome (WHS). Only on high resolution banding was a deletion of 4p16.3 suspected in both the proband and the father. Further studies using simultaneous R banding and FISH, with cosmid probe pc847.351 containing the mildly repetitive fragment 847-EC, confirmed the diagnosis and showed a paternal balanced translocation t(4;8)(p16.3;q24.3).