Cytogenetic studies of familial Prader-Willi syndrome

Summary A family in which two first cousins were found to have the Prader-Willi syndrome was investigated cytogenetically. Although G-banding analysis of metaphase chromosomes failed to demonstrate abnormality, close analyses on the fine prometaphase bands by G-banding and the DA-DAPI bands by double stainings revealed a distinct chromosome abnormality in this family. A reciprocal translocation, rep(14:15)(q11.2;q13), was detected in three family members: the mother, the maternal grandmother, and a maternal uncle of the proband. And, the proband and one of the first cousins had an unbalanced translocation that was derived from their carrier parents. The karyotypes of the affected cousins were determined as 46,XY or XX,-15,+der(14),rcp(14;15)(q11.2;q13). Therefore, they were considered to have an identical cytogenetic abnormality: a partial trisomy of the 14pterq11.2 segment and a partial monosomy of the 15pterq13 segment. Detailed clinical features of the proband and his affected cousin are described, main features associated with the Prader-Willi syndrome having been observed in both cousins. These observations support a definite relationship between the Prader-Willi syndrome and chromosome 15.