一个患有（8；13）（p21；q22）易位的家庭中具有正常表型的核型不平衡。

Unbalanced karyotype with normal phenotype in a family with translocation (8;13)(p21;q22).

作者信息

Bröcker-Vriends A H, van de Kamp J J, Geraedts J P, Bos S E, Nijenhuis T A

出版信息

Clin Genet. 1985 May;27(5):487-95. doi: 10.1111/j.1399-0004.1985.tb00237.x.

DOI:10.1111/j.1399-0004.1985.tb00237.x

Abstract

We describe a family with translocation (8;13) (p21;q22), in which both unbalanced products of adjacent-1 segregation occurred. Two members of the family have partial trisomy 8p with partial monosomy 13q; two others have partial monosomy 8p with partial trisomy 13q. The latter are both phenotypically normal, which is a highly unusual observation. One of these is, in addition, a carrier of a de novo balanced translocation between chromosomes 2 and 19. The risk for unbalanced progeny is discussed.

摘要

我们描述了一个患有易位（8；13）（p21；q22）的家族，其中相邻-1分离的两种不平衡产物均出现。该家族的两名成员患有8p部分三体性伴13q部分单体性；另外两名成员患有8p部分单体性伴13q部分三体性。后者在表型上均正常，这是一个非常不寻常的观察结果。此外，其中一人还是2号和19号染色体之间新发平衡易位的携带者。文中讨论了产生不平衡后代的风险。