Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome. Issue 10 (October 1996)

• Record Type: Journal Article
• Authors: Horsthemke, B; Maat-Kievit, A; Sleegers, E; van den Ouweland, A; Buiting, K; Lich, C; Mollevanger, P; Beverstock, G; Gillessen-Kaesbach, G; Schwanitz, G
• Is Part Of: Journal of medical genetics. Volume 33:Issue 10(1996)
• Page Start: 848
• Page End: 851
• Publication Date: 1996-10
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.33.10.848
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : A de novo interstitial deletion of 15q11-q13 is the major cause of Prader-Willi syndrome (PWS) and Angelman syndrome (AS). Here we describe two unrelated PWS patients with a typical deletion, whose fathers have a balanced translocation involving the PWS/AS region. Microsatellite data suggest that the deletion is the result of an unequal crossover between the derivative chromosome 15 and the normal chromosome 15. We conclude that familial translocations involving 15q11-q13 can give rise to interstitial deletions causing PWS or AS and that prenatal diagnosis in such families should include fluorescence in situ hybridisation or microsatellite studies or both.