环状22号染色体或r(22)是一种极为少见的细胞遗传异常,其第22对染色体中的一条形成一个环状结构。该病以精神发育迟缓、延迟的运动发育、肌肉张力低下、面部畸形和心境障碍等为其最显著的特征。作者报告了首例环状22号染色体畸变者表现为无精症但其余表型正常的病例。患者男性,31岁,其父母健康, Cyclic 22 chromosome or r (22) is a very rare cytogenetic abnormality, one of the 22 pairs of chromosomes form a ring structure. The disease with mental retardation, delayed motor development, muscle tension, facial deformity and mood disorders as its most significant feature. The authors reported the first case of a circulatory chromosome 22 aberrant presenting as azoospermic with the remaining phenotype normal. Patient Male, 31 years old, parental health,