一个患有（18；21）（q21；q22）易位的家族中的18号染色体部分三体。
Partial trisomy 18 in a family with a translocation (18;21)(q21;q22).
作者信息
Niazi M, Coleman D V, Saldaña-Garcia P
出版信息
J Med Genet. 1978 Apr;15(2):148-51. doi: 10.1136/jmg.15.2.148.
Abstract
A family is described in which 2 sibs had similar congenital abnormalities. Chromosome investigation of the mother and another child disclosed they were carriers of a translocation t(18;21)(q21;q22). The karyotype of one of the abnormal infants was determined and was found to be consistent with partial trisomy 18,46,XY,-21,+der (21),t(18;21) ((18pter leads to 18q21::21q22 leads to 2 lqter)mat.
摘要
描述了一个家庭，其中两个兄弟姐妹有相似的先天性异常。对母亲和另一个孩子进行染色体检查发现，他们是18号与21号染色体易位t(18;21)(q21;q22)的携带者。确定了其中一名异常婴儿的核型，发现与18号染色体部分三体相符，核型为46,XY,-21,+der(21),t(18;21)((18pter→18q21::21q22→21qter)mat。
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