因不平衡易位t(X;4)(p22.1;p14)导致的4号染色体三体女性患者的轻度表型及正常性腺功能
Mild phenotype and normal gonadal function in females with 4p trisomy due to unbalanced t(X;4)(p22.1;p14).
作者信息
Petit P, Hilliker C, Van Leuven F, Fryns J P
机构信息
Department of Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium.
出版信息
Clin Genet. 1994 Oct;46(4):304-8. doi: 10.1111/j.1399-0004.1994.tb04165.x.
In this report we describe the mild phenotypic manifestations and normal gonadal function in a 50-year-old mother and her 17-year-old daughter with 4p trisomy resulting from an unbalanced t(X;4)(p22.1;p14) mat. Late replication of the der(X) was demonstrated by BrdU incorporation with spreading of the late replication to the 4p portion as an explanation of the reduced effect of the trisomy 4p/monosomy Xp on the physical and secondary sexual development in both patients.
在本报告中，我们描述了一名50岁母亲及其17岁女儿因母源不平衡易位t(X;4)(p22.1;p14)导致4p三体综合征的轻度表型表现和正常性腺功能。通过BrdU掺入证明了衍生X染色体（der(X)）的晚复制，且晚复制扩展到4p部分，以此解释4p三体/ Xp单体对两名患者身体和第二性征发育影响减弱的原因。
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