| Rothmund-Thomson综合征2例及家系调查 |
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| 引用本文： | 黎明,郑道城.Rothmund-Thomson综合征2例及家系调查[J].岭南皮肤性病科杂志,2006,13(1):55-57. |
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| 作者姓名： | 黎明 郑道城 |
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| 作者单位： | 广东省皮肤性病防治中心,广东,广州,510500 |
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| 摘 要： | 报告2例Rothmund Thomson综合征病例,为表兄弟,分别3岁5个月和2岁8个月。他们的母亲是姐妹关系。2个病例都是在出生后的3-4个月时发病,主要表现为面部的皮肤异色症及身材稍矮小,智力和发育仍属正常。包括两病例在内,整个家系中在2-5代共有10人发病,全是男性患者。本家系的遗传方式与通常认为的常染色体遗传方式不符,而与性连锁隐性遗传较为吻合,该综合征是否也存在着多种遗传方式值得进一步探讨。
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| 关 键 词： | RothmundThomson综合征 家系调查 |
| 文章编号： | 1009-8968（2006）01-0055-03 |
| 收稿时间： | 2005-12-20 |
| 修稿时间： | 2005年12月20 |
Two Cases of Rothmund-Thomson Syndrome Reported and the Family Pedigree Analysis |
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| LI Ming,ZHENG Dao-cheng.Two Cases of Rothmund-Thomson Syndrome Reported and the Family Pedigree Analysis[J].Southern China Journal of Dermato-Venereology,2006,13(1):55-57. |
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| Authors: | LI Ming ZHENG Dao-cheng |
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| Abstract: | Two cases of Rothmumd-Thomson syndrome were reported and the family pedigree has been analyzed. The probands of cousins were 3-year-old and 2-year-old respectively, and clinical manifestations were poikiloderma on face and short stature with normal intelligence. There were eight male , no any female patients, in this family. The pattern of inheritance was quite different from the common one--autosomal recessive pattern, it was coincided with sex-linked inheritance. |
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| Keywords: | Rothmund-Thomson syndrome Family pedigree analysis |
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