Boyd H, Kaste J, Hovi E, Ritanen-Mohammed U M, Kääriäinen H, de la Chapelle A, Lehesjoki A E
Department of Medical Genetics, University of Helsinki, Finland.
J Med Genet. 1994 Mar;31(3):201-5. doi: 10.1136/jmg.31.3.201.
We describe two families in whom a pericentric inversion, inv(8)(p23q11), is segregating. No examples of unbalanced karyotypes were encountered. The families originated from neighbouring parishes in western Finland. In one family a mild form of mental retardation segregated. However, this phenotype did not cosegregate with the inversion karyotype. There was no evidence of a higher than average abortion rate in the inversion carriers. Carrier matings produced 19 children with a balanced inversion and 14 children with a normal karyotype, concordant with a 1:1 segregation ratio. Of 13 karyotyped men at risk, 10 were inversion carriers. However, this difference was not statistically different from the expected 1:1 ratio. In females, the inversion carrier to normal ratio was 10:11.
我们描述了两个家系，其中一种8号染色体臂间倒位，inv(8)(p23q11)，呈分离状态。未发现染色体核型不平衡的例子。这些家系来自芬兰西部相邻的教区。在一个家系中，一种轻度智力发育迟缓呈分离状态。然而，这种表型与倒位核型并不共分离。没有证据表明倒位携带者的流产率高于平均水平。携带倒位的配偶生育了19名具有平衡倒位的儿童和14名核型正常的儿童，符合1:1的分离比例。在13名有风险的核型分析男性中，10名是倒位携带者。然而，这一差异与预期的1:1比例在统计学上并无差异。在女性中，倒位携带者与正常者的比例为10:11。
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