Soudek D, Sroka H
Hum Genet. 1978 Oct 31;44(2):109-15. doi: 10.1007/BF00295403.
The frequency of the 'inversion' of flourescent constitutive heterochromatin in chromosome 3 was the same in a sample of 370 retarded persons as in a sample of 222 mentally normal men. It can be concluded that this 'inversion' is not associated with mental retardation. This variant is more common (4%) in the Canadian population we studied than in samples reported by most other authors (0-1.7%). Possibly the founder effect could play a role in the differences. Two cases of homozygotes for this 'inversion' were identified.
在370名智力发育迟缓者的样本中,3号染色体上荧光组成型异染色质“倒位”的频率与222名智力正常男性的样本相同。可以得出结论,这种“倒位”与智力发育迟缓无关。在我们研究的加拿大人群中,这种变异更为常见(4%),而在大多数其他作者报告的样本中(0 - 1.7%)则不然。可能奠基者效应在这些差异中起了作用。我们鉴定出了两例这种“倒位”的纯合子。