Smith A, Lindeman R, Volpato F, Kearney A, White S, Haan E, Trent R J
Oliver Latham Laboratory, Department of Health, North Ryde, N.S.W., Australia.
Hum Genet. 1991 Mar;86(5):534-6. doi: 10.1007/BF00194651.
Interstitial cytogenetic deletions involving the paternally derived chromosome 15q11-13 have been described in patients with the Prader-Willi syndrome (PWS). We report a child with PWS and a de novo unbalanced karyotype -45,XY,-9,-15,+der(9)t(9;15)(q34;q13). Molecular studies with the DNA probe pML34 confirmed that only a single Prader Willi critical region (PWCR:15q11.2-q12) copy was present. Hybridisation of patient and parental DNA with the multi-allelic probe CMW1, which maps to pter-15q13, showed that the chromosome involved in the translocation was paternal in origin. This is the first example of a paternally-derived PWCR allele loss caused by an unbalanced translocation that has arisen de novo.
普拉德-威利综合征（PWS）患者中已发现涉及父源15号染色体q11-13的间质性细胞遗传学缺失。我们报告了一名患有PWS且核型为-45,XY,-9,-15,+der(9)t(9;15)(q34;q13)的新发不平衡核型患儿。用DNA探针pML34进行的分子研究证实，仅存在一个普拉德-威利关键区域（PWCR：15q11.2-q12）拷贝。患者和亲代DNA与定位于pter-15q13的多等位基因探针CMW1杂交显示，易位涉及的染色体来自父源。这是由新发不平衡易位导致父源PWCR等位基因缺失的首个病例。
