一种平衡的全臂相互易位导致三种不同的不良妊娠结局。
A balanced whole arm reciprocal translocation resulting in three different adverse pregnancy outcomes.
作者信息
Cooper P J, Towe C, Crolla J A
机构信息
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Odstock, UK.
出版信息
J Med Genet. 1993 May;30(5):417-8. doi: 10.1136/jmg.30.5.417.
Abstract
A family with a whole arm translocation t(13;18)(13p18p;13q18q) was ascertained through a stillbirth with clinical features suggestive of trisomy 18. Two subsequent pregnancies both spontaneously aborted; one was found to have a 69,XXX,t(13;18)mat chromosome constitution while the other had a 45,XY,-13,-18, + der(18)t(13;18)mat chromosome constitution.
摘要
一个具有整条臂易位t(13;18)(13p18p;13q18q)的家系通过一个具有提示18三体临床特征的死产病例得以确定。随后的两次妊娠均自然流产；其中一次发现胎儿具有69,XXX,t(13;18)母源染色体组成，而另一次胎儿具有45,XY,-13,-18, + der(18)t(13;18)母源染色体组成。
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本文引用的文献
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Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing.相互易位：一种通过粗线期图绘制预测不平衡分离模式的方法。
Hum Genet. 1980;55(2):209-22. doi: 10.1007/BF00291769.
2
Triploidy arising from a first meiotic non-disjunction in a mother carrying a reciprocal translocation.三倍体源于携带相互易位的母亲的第一次减数分裂不分离。
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