8号染色体家族性臂间倒位：断点p22q23在不平衡重组体形成中重要吗？
Familial pericentric inversion of chromosome 8 : is breakpoint p22q23 important in the formation of unbalanced recombinants?
作者信息
Moedjono S J, Sparkes R S
出版信息
Ann Genet. 1980;23(4):235-7.
PMID:6971603
Abstract
A female infant with multiple congenital anomalies was ascertained to have 46,XX,rec(18)dup q, inv(8)(p23q22) through a carrier father with pericentric inversion of chromosome 8 (46,XY,inv(8)(p23q22). Comparison of the clinical and cytogenetic findings are made with previously published similar cases.
摘要
一名患有多种先天性异常的女婴，通过其携带8号染色体臂间倒位（46,XY,inv(8)(p23q22)）的父亲，被确定为46,XX,rec(18)dup q, inv(8)(p23q22)。将该病例的临床和细胞遗传学发现与先前发表的类似病例进行了比较。
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