Collinson M N, Fisher A M, Walker J, Currie J, Williams L, Roberts P
Wessex Regional Genetics Laboratory, Salisbury District Hospital, UK.
Hum Genet. 1997 Dec;101(2):175-80. doi: 10.1007/s004390050609.
We present 33 families in which a pericentric inversion of chromosome 10 is segregating. In addition, we summarise the data on 32 families in which an apparently identical inv(10) has been reported in the literature. Ascertainment was through prenatal diagnosis or with a normal phenotype in 21/33 families. In the other 12 families, probands were ascertained through a wide variety of referral reasons but in all but one case (a stillbirth), studies of the family showed that the reason for referral was unrelated to the chromosome abnormality. There has been, to our knowledge, no recorded instance of a recombinant chromosome 10 arising from this inversion and no excess of infertility or spontaneous abortion among carriers of either sex. We propose that inv(10)(p11.2q21.2) can be regarded as a variant analogous to the pericentric inversion of chromosome 2(p11q13). We conclude that prenatal chromosome analysis is not justified for inv(10) carriers. In addition, family investigation of carrier status is not warranted in view of the unnecessary concern this may cause parents and other family members.
我们展示了33个家系，其中10号染色体臂间倒位正在进行分离。此外，我们总结了文献中报道的32个家系的数据，这些家系中存在明显相同的inv(10)。在33个家系中的21个家系中，通过产前诊断或正常表型进行确诊。在其他12个家系中，先证者通过各种转诊原因确诊，但除1例（死产）外，对家系的研究表明，转诊原因与染色体异常无关。据我们所知，没有记录表明由此倒位产生重组10号染色体的实例，且男女携带者中均没有不育或自然流产过多的情况。我们建议inv(10)(p11.2q21.2)可被视为类似于2号染色体(p11q13)臂间倒位的一种变异。我们得出结论，对于inv(10)携带者，产前染色体分析没有必要。此外，鉴于这可能会给父母和其他家庭成员带来不必要的担忧，因此也没有必要对携带者状态进行家系调查。
