title: Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.
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.
authors.affiliation: Institut für Humangenetik, Universitätsklinikum Essen, Germany.
authors.forename: B
authors.initials: B
authors.lastname: Horsthemke
authors.forename: A
authors.initials: A
authors.lastname: Maat-Kievit
authors.forename: E
authors.initials: E
authors.lastname: Sleegers
authors.forename: A
authors.initials: A
authors.lastname: van den Ouweland
authors.forename: K
authors.initials: K
authors.lastname: Buiting
authors.forename: C
authors.initials: C
authors.lastname: Lich
authors.forename: P
authors.initials: P
authors.lastname: Mollevanger
authors.forename: G
authors.initials: G
authors.lastname: Beverstock
authors.forename: G
authors.initials: G
authors.lastname: Gillessen-Kaesbach
authors.forename: G
authors.initials: G
authors.lastname: Schwanitz
mesh_terms: D017204:Angelman Syndrome / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D010375:Pedigree; D011218:Prader-Willi Syndrome / Q000235:genetics*; D014178:Translocation, Genetic