Townes P L, White M R, Stiffler S J, Goh K
Am J Dis Child. 1975 Sep;129(9):1062-5. doi: 10.1001/archpedi.1975.02120460048012.
Double aneuploidy involving Down and Turner syndromes is a rare occurrence. Of the six patients reported to have combined Down and Turner syndromes, four fundamentally different forms of chromosome mosaicism have been noted and all have been mosaic with respect to monosomy X. Reported here is the first example of a Turner-Down patient in whom there is no X mosaicism. The different forms of the double aneuploidy cannot be explained by any single combination of nondisjunctional errors. The clinical findings in these patients and the several mechanisms of nondisjunctional error that may account for the observed forms of aneuploidy are reviewed and discussed.
涉及唐氏综合征和特纳综合征的双非整倍体情况极为罕见。在已报告的6例合并唐氏综合征和特纳综合征的患者中，已发现4种根本不同形式的染色体嵌合体，并且所有患者均存在X单体性嵌合体。本文报告了首例不存在X嵌合体的特纳-唐氏患者。双非整倍体的不同形式无法用任何单一的不分离错误组合来解释。本文对这些患者的临床发现以及可能导致所观察到的非整倍体形式的几种不分离错误机制进行了综述和讨论。
