TY - JOUR T1 - Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome. JF - Journal of Medical Genetics JO - J Med Genet SP - 848 LP - 851 DO - 10.1136/jmg.33.10.848 VL - 33 IS - 10 AU - B Horsthemke AU - A Maat-Kievit AU - E Sleegers AU - A van den Ouweland AU - K Buiting AU - C Lich AU - P Mollevanger AU - G Beverstock AU - G Gillessen-Kaesbach AU - G Schwanitz Y1 - 1996/10/01 UR - http://jmg.bmj.com/content/33/10/848.abstract N2 - 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. ER -