Prader‐Willi syndrome and chromosomal mosaicism 46, XY/47, XY, + mar in two cases

Abstract
Two mentally retarded children with the Prader-Willi syndrome (karyotype: 46,XY/47,XY, + mar) are reported. The majority of Prader-Willi patients with chromosome abnormalities have either 15/15 translocations or mosaicism. Both of these aberrations presumably occur after fertilization. A possible relationship between high parental age and chromosome abnormalities in the Prader-Willi syndrome is discussed.