Habedank M, Kampe G
Humangenetik. 1975 Sep 23;29(3):207-16. doi: 10.1007/BF00297625.
A boy with both Down's and Sturge-Weber's syndrome was found to have a partial trisomy 21 as a consequence of a familial translocation t(3p-;21q+) which is not reciprocal. Judging from the structure of the involved chromosomes studied by banding and photometrical techniques, the loss of relatively large material of 21q is to be suggested. The meiotic segregation appears to depend on the involved 3p segment and not on the involved centromere of No. 21 as actually expected. The pedigree of the family shows 6 balanced carriers through 3 generations in addition to the propositus. The risk of having offspring with Down's syndrome obviously concerns female carriers in the first place, whereas the male carriers rather produce balanced carriers. Of the additional Sturge-Weber's syndrome there was no cytogenetical cause as expected.
一名患有唐氏综合征和斯特奇-韦伯综合征的男孩被发现因家族性非相互易位t(3p-;21q+)而导致部分21号染色体三体。从通过显带和光度测量技术研究的受累染色体结构来看，提示21q相对大片段物质缺失。减数分裂分离似乎取决于受累的3p片段，而不是如实际预期的取决于21号染色体的受累着丝粒。该家族谱系显示，除先证者外，三代中有6名平衡携带者。生育唐氏综合征患儿的风险显然首先涉及女性携带者，而男性携带者则更容易产生平衡携带者。至于额外的斯特奇-韦伯综合征，正如预期的那样，没有细胞遗传学原因。
