Michaelsen K F, Lundsteen C, Hansen F J
Clin Genet. 1979 Sep;16(3):147-50. doi: 10.1111/j.1399-0004.1979.tb00983.x.
Two cases of the Prader-Willi syndrome with 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.
报告了两例患有普拉德-威利综合征且核型为46,XY/47,XY,+mar的病例。大多数患有染色体异常的普拉德-威利综合征患者要么存在15号染色体易位，要么是嵌合体。这两种畸变可能都发生在受精之后。本文还讨论了父母高龄与普拉德-威利综合征染色体异常之间可能存在的关系。
