Vine D T, Yarkoni S, Cohen M M
Am J Hum Genet. 1976 May;28(3):203-7.
A pericentric inversion of chromosome no. 9 was present in seven of 10 members of a highly inbred kindred investigated; two were inversion homozygotes and five were heterozygotes. Inversion homozygosity was observed in both the propositus, ascertained because of ambiguous genitalia, and his phenotypically normal father. A phenotypically normal sister and brother with similar clinical findings proved to be inversion heterozygotes. These findings conclude that no causal relationship exists between the inversion and the abnormal phenotype.
在一个经过研究的高度近亲通婚家族的10名成员中，有7人存在9号染色体的臂间倒位；其中2人是倒位纯合子，5人是杂合子。在因生殖器模糊而被确诊的先证者及其表型正常的父亲中均观察到倒位纯合性。一名表型正常但有类似临床症状的姐姐和哥哥被证明是倒位杂合子。这些发现表明，倒位与异常表型之间不存在因果关系。
