Clayton-Smith J, Driscoll D J, Waters M F, Webb T, Andrews T, Malcolm S, Pembrey M E, Nicholls R D
Department of Medical Genetics, St. Mary's Hospital, Manchester, United Kingdom.
Am J Med Genet. 1993 Oct 1;47(5):683-6. doi: 10.1002/ajmg.1320470519.
Abnormalities of chromosome region 15q11-13 are associated with Angelman syndrome (AS) and Prader-Willi syndrome (PWS). Differences between the methylation patterns of the region of chromosome 15q11-13 which hybridizes to the highly conserved DNA, DN34, in normal individuals and in patients with AS and PWS have been described. We report on a family in which first cousins are affected by AS and PWS as a result of a familial paracentric inversion of 15q11-q13. The results of the studies on this family demonstrate the differences in the methylation patterns in the 2 conditions and the phenomenon of genomic imprinting, whereby genetic information is expressed differently dependent on the parent of origin.
染色体区域15q11 - 13的异常与天使综合征（AS）和普拉德-威利综合征（PWS）相关。已经描述了在正常个体以及AS和PWS患者中，与高度保守DNA（DN34）杂交的染色体15q11 - 13区域甲基化模式的差异。我们报告了一个家族，其中的一对堂兄妹因15q11 - q13的家族性臂内倒位而患有AS和PWS。对这个家族的研究结果表明了这两种病症甲基化模式的差异以及基因组印记现象，即遗传信息根据其起源亲本的不同而有不同表达。
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