与无精子症相关的家族性inv(1)(p3500q21.3)
Familial inv(1) (p3500q21.3) associated with azoospermia.
作者信息
Rivera H, Alvarez-Arratia M C, Moller M, Díaz M, Cantú J M
出版信息
Hum Genet. 1984;66(2-3):165-7. doi: 10.1007/BF00286593.
PMID:6714976
Abstract
An inv(1) (p3500q21.3) was found in an azoospermic man, his mother and two other maternal relatives. Although the mechanisms involved are still unclear, it is stressed that pericentric inversions of chromosome 1 in which the inverted chromosome becomes submetacentric (centromeric index less than or equal to 0.324) apparently impair spermatogenesis.
摘要
在一名无精子症男性及其母亲和另外两名母系亲属中发现了inv(1)(p3500q21.3)。虽然其中涉及的机制仍不清楚，但需要强调的是，1号染色体的臂间倒位（其中倒位后的染色体变为亚中着丝粒染色体，着丝粒指数小于或等于0.324）显然会损害精子发生。
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