一条遗传的小额外染色体：一位母亲核型为46,XX,t(17;22)(p1;q1) ，其儿子核型为47,XY,+der(22)mat 。
An inherited small extra chromosome: a mother with 46,XX,t(17;22)(pl;ql) and a son with 47,XY,+der(22)mat.
作者信息
Borgaonkar D S, McKusick V A, Farber P A
出版信息
J Med Genet. 1973 Dec;10(4):379-84. doi: 10.1136/jmg.10.4.379.
Abstract
A boy with multiple congenital anomalies was found to have a small extra chromosome. This small chromosome was interpreted as a der(22)mat because his mother was a balanced carrier with 46,XX,t(17;22) (p1;q1) chromosomes. It is hoped that with the use of the banding techniques many karyotypes will be revaluated and reinterpreted. The mother's karyotype was erroneously interpreted earlier as a 21/22 translocation.
摘要
一名患有多种先天性异常的男孩被发现有一条额外的小染色体。这条小染色体被解释为衍生22号染色体，因为他的母亲是一名染色体核型为46,XX,t(17;22)(p1;q1)的平衡携带者。希望通过使用显带技术，许多核型将得到重新评估和重新解释。母亲的核型早些时候被错误地解释为21/22易位。
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