一名患有普拉德-威利综合征男孩的15号染色体长臂重复；进一步的细胞遗传学混淆。
Duplication in chromosome 15q in a boy with the Prader-Willi syndrome; further cytogenetic confusion.
作者信息
de France H F, Beemer F A, Ippel P F
出版信息
Clin Genet. 1984 Oct;26(4):379-82. doi: 10.1111/j.1399-0004.1984.tb01075.x.
Abstract
We describe a six-year-old boy with the typical features of Prader-Willi syndrome. Cytogenetic investigation revealed a chromosome aberration that has not been described yet, i.e. a duplication in the proximal half of 15q. Based upon banding-pattern the exact nature of the duplicated part could not be delineated. Both parents had a normal karyotype. Various hypotheses concerning the relationship between Prader-Willi syndrome and various chromosome 15 abnormalities are discussed.
摘要
我们描述了一名患有普拉德-威利综合征典型特征的六岁男孩。细胞遗传学研究发现了一种尚未被描述过的染色体畸变，即15号染色体长臂近端的重复。根据带型，无法确定重复部分的确切性质。父母双方的核型均正常。文中讨论了关于普拉德-威利综合征与各种15号染色体异常之间关系的各种假说。
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