RT Journal Article
SR Electronic
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
FD BMJ Publishing Group Ltd
SP 848
OP 851
DO 10.1136/jmg.33.10.848
VO 33
IS 10
A1 B Horsthemke
A1 A Maat-Kievit
A1 E Sleegers
A1 A van den Ouweland
A1 K Buiting
A1 C Lich
A1 P Mollevanger
A1 G Beverstock
A1 G Gillessen-Kaesbach
A1 G Schwanitz
YR 1996
UL http://jmg.bmj.com/content/33/10/848.abstract
AB 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.