Buiting K, Färber C, Kroisel P, Wagner K, Brueton L, Robertson M E, Lich C, Horsthemke B
Institut für Humangenetik, Universitätsklinikum Essen, Germany.
Clin Genet. 2000 Oct;58(4):284-90. doi: 10.1034/j.1399-0004.2000.580406.x.
Prader-Willi syndrome (PWS) is a complex genetic syndrome involving imprinted genes on chromosome 15. It is usually sporadic, and very few affected siblings have been described. Here, we report the clinical and molecular findings in two families with a microdeletion affecting the chromosome 15 imprinting centre (IC). Carrier males have a 50% risk of having children with an imprinting defect leading to PWS, and in one of the two families, a father has two affected daughters. In the other family, diagnostic testing was confounded by the presence of a neutral microdeletion close to the IC. The silent transmission of PWS IC deletions through the female germline and the occurrence of neutral microdeletions close to the IC can impose considerable problems on diagnostic testing and genetic counselling in affected families.
普拉德-威利综合征（PWS）是一种涉及15号染色体上印记基因的复杂遗传综合征。它通常是散发的，很少有受影响的兄弟姐妹被报道。在此，我们报告了两个患有影响15号染色体印记中心（IC）的微缺失的家庭的临床和分子研究结果。携带微缺失的男性有50%的风险生育患有导致PWS的印记缺陷的孩子，在这两个家庭中的一个家庭里，一位父亲有两个患病女儿。在另一个家庭中，由于靠近IC处存在一个中性微缺失，诊断检测变得复杂。PWS IC微缺失通过女性生殖系的隐性传递以及靠近IC处中性微缺失的出现，可能给受影响家庭的诊断检测和遗传咨询带来相当大的问题。
