源于母亲染色体易位的17号染色体长臂远端重复：一例具有某些独特特征的新增病例。
Duplication of distal 17q from a maternal translocation: an additional case with some unique features.
作者信息
Caine A, Knapton D M, Mueller R F, Congdon P J, Haigh D
机构信息
Regional Cytogenetics Unit, St James's University Hospital, Leeds.
出版信息
J Med Genet. 1989 Sep;26(9):577-9. doi: 10.1136/jmg.26.9.577.
A female with multiple dysmorphic features was found to have an unbalanced karyotype with duplication of the distal long arm of chromosome 17 and deletion of the terminal region of the short arm of chromosome 12. This was derived from a reciprocal translocation in the mother, 46,XX,t(12;17)(p13.3;q23). Clinical findings are presented and comparison with other reported cases of distal 17q duplication shows several unique features in our case.
一名具有多种畸形特征的女性被发现其核型不平衡，17号染色体长臂远端重复，12号染色体短臂末端区域缺失。这源自母亲的一次相互易位，核型为46,XX,t(12;17)(p13.3;q23)。本文展示了临床发现，并将其与其他已报道的17q远端重复病例进行比较，结果显示我们的病例有几个独特特征。
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