Pescia G, Gaide A C, Juillard E
J Genet Hum. 1977 Jun;25(2):121-34.
The authors describe three unrelated families who had a pericentric inversion of chromosome 9. Three female patients and 9 out of 16 members of their families were heterozygous carriers of the same chromosomal recombination. This anomaly has been found with a frequency of about 1% in our laboratory. The different clinical and cytogenetic implications are briefly discussed.
作者描述了三个不相关的家庭,他们都有9号染色体的臂间倒位。三名女性患者及其家族16名成员中有9名是相同染色体重组的杂合携带者。在我们实验室中,这种异常情况的发现频率约为1%。文中简要讨论了其不同的临床和细胞遗传学意义。