Winsor E J, Welch J P
Clin Genet. 1983 Dec;24(6):456-61. doi: 10.1111/j.1399-0004.1983.tb00104.x.
A boy with Prader-Willi syndrome was found to have an inversion of chromosome 15,[46,XY,inv(15)(p13q13)]. His unaffected father has an apparently identical inversion of chromosome 15 but in addition has a number 14 chromosome with double satellites. This report supports previous indications of a relationship between a "position effect" and the etiology of Prader-Willi syndrome. However, a more complicated explanation is required in view of the cytogenetic findings in the proband's father.
一名患有普拉德-威利综合征的男孩被发现有15号染色体倒位，[46,XY,inv(15)(p13q13)]。他未受影响的父亲有一个明显相同的15号染色体倒位，但此外还有一条带有双随体的14号染色体。本报告支持了先前关于“位置效应”与普拉德-威利综合征病因之间关系的指征。然而，鉴于先证者父亲的细胞遗传学发现，需要一个更复杂的解释。
