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与两条副双着丝粒染色体相关的不孕症。

Infertility associated with two accessory bisatellited chromosomes.

作者信息

Martín-Lucas M A, Pérez-Castillo A, Abrisqueta J A

出版信息

Hum Genet. 1986 Jun;73(2):133-6. doi: 10.1007/BF00291603.

Abstract

Two extra bisatellited chromosomes identified as inv dup (15) (pter----q11.2::q11.2----pter) were found in an oligoasthenospermic male. Analysis of Ag-staining in the proband and in one fertile brother with a normal karyotype revealed that nucleolar organizer region (NOR) activity was significantly increased in the patient. The frequency of satellite associations was also significantly higher in the index case, but no correlation was found between NOR activity and acrocentric associations. These results suggest that extra NOR activity and the elevated frequency of satellite associations could predispose to gametogenic impairment.

摘要

在一名少弱精子症男性中发现了两条额外的双随体染色体,鉴定为inv dup(15)(pter----q11.2::q11.2----pter)。对先证者及一名核型正常的可育兄弟进行银染分析发现,患者的核仁组织区(NOR)活性显著增加。先证者中卫星体联合的频率也显著更高,但未发现NOR活性与近端着丝粒联合之间存在相关性。这些结果表明,额外的NOR活性和卫星体联合频率升高可能易导致配子发生障碍。

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