19号染色体家族性臂间倒位，inv(19)(p13q13)及关于臂间倒位携带者遗传咨询的说明
Familial pericentric inversion of chromosome 19, inv(19) (p13q13) with a note on genetic counseling of pericentric inversion carriers.
作者信息
Sutherland G R, Gardiner A J, Carter R F
出版信息
Clin Genet. 1976 Jul;10(1):54-9. doi: 10.1111/j.1399-0004.1976.tb00009.x.
Abstract
An inmate of a hospital for the mentally retarded was found during a cytogenetic screening programme to have karyotype 46,XY,inv(19)(p13q13)mat. Clinical, cytogenetic and family findings are presented and it is concluded that the chromosomes abnormality was probably not the cause of the patient's retardation. The problem of genetic counseling of inversion carriers is examined in some detail and estimates of risk are given.
摘要
在一项细胞遗传学筛查项目中，发现一名智障医院的住院患者核型为46,XY,inv(19)(p13q13)mat。本文展示了临床、细胞遗传学及家族研究结果，并得出结论：染色体异常可能并非该患者智力发育迟缓的病因。本文还详细探讨了倒位携带者的遗传咨询问题，并给出了风险评估。
Zotero 插件