The origin of inverted tandem duplications, and phenotypic effects of tandem duplication of the X chromosome long arm.
The origin of inverted tandem duplications, and phenotypic effects of tandem duplication of the X chromosome long arm.
复制标题
反向串联重复的起源，以及 X 染色体长臂串联重复的表型效应。
DOI：
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发表时间：
1983
期刊：
影响因子：
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通讯作者：
L. Weiss
中科院分区：
文献类型：
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作者：
D. V. Van Dyke;M. Miller;L. Weiss
染色体材料的串联重复可以以倒置或直接复制的形式出现。X染色体的这种复制对于表型的X连锁遗传决定因素很有指导意义。我们描述一位40岁女性，其Xq13.3至Xq27.2基因直接重复，身材矮小，性腺发育不全，继发性闭经。将她的表型与另外两名Xq部分直接重复的女性的表型进行比较，证实了X13至Xq21区域存在状态决定因素，X22至X27区域存在卵巢功能决定因素，Xq13.3区带或其附近存在X失活中心。在人类中，直接复制比反向复制更频繁，但这两种形式都很少见。父母的平均年龄在直接复制的受试者中是正常的，但在反向复制的受试者中更高。反向重复可以由包括U型交换的三断点重排产生；对于包括双着丝粒等染色体X的双着丝粒反向重复，可以假设类似的起源(两个断点和U型交换)和亲代年龄关联。
Tandem repeats of chromosome material can arise as inverted or as direct duplications. Such duplications of the X chromosome are instructive regarding X-linked genetic determinants of phenotype. We describe a 40-year-old woman with a direct duplication Xq13.3 to Xq27.2, short stature, gonadal dysgenesis, and secondary amenorrhea. Comparison of her phenotype with that of two other women with a direct duplication of part of Xq confirms the existence of statural determinants within the region X13 to Xq21, determinants of ovarian function within X22 to X27, and the X inactivation center within or proximal to band Xq13.3. In humans, direct duplications are more frequent than inverted, but both forms are rare. The mean age of parents is normal in subjects with direct duplications, but is advanced in subjects with inverted duplications. An inverted duplication can arise from a three-break rearrangement that includes a U-type exchange; a similar origin (two breaks and a U-type exchange) and a parental age association can be postulated for dicentric inverted duplications including dicentric isochromosome X.