本文报告一个有24名患者的巨大家系。1例“正常”男性通过8个女儿将本病传递给16个外孙及1个曾外孙。不外显可能是造成这例正常表型与核型的原因。提示:在本病流行病学调查中,除注意男性患者及女性携带者外,对患者的表型正常的兄弟亦不应忽视,以期即时发现男性携带者,减少本病的扩延。 This article reports a huge family of 24 patients. One case of “normal” male transmitted the disease to 16 grandchildren and one great-grandchild through 8 daughters. No explicit cause may be caused by this normal phenotype and karyotype. Tip: Epidemiological survey of this disease, in addition to pay attention to male patients and female carriers, the normal phenotype of patients should not be ignored, with a view to immediately find men carriers, to reduce the spread of the disease.