X连锁隐性遗传性Marinesco-Sjögren综合征一家系五代11例报告

遗传 ›› 2001, Vol. 23 ›› Issue (5): 409-741.

X连锁隐性遗传性Marinesco-Sjögren综合征一家系五代11例报告

邰风1;于丽2;赵洪祥3;王明礼4 TAI Feng1;YU Li2;ZHAO Hong-xiang3;WANG Ming-li4

1.山东省烟台芝罘区世回尧医院，烟台 264000 2.广东省深圳市龙岗区平湖镇人民医院，深圳 518111 3.黑龙江省鹤岗卫生学校，鹤岗 154101 4.广东省深圳市龙岗区平湖镇人民医院,深圳 518111 1.Neurologic Institute,Yantai Shihuirao Hospital of Shandong Province,Yantai 264000,China; 2.Pinghu Peoples Hospital of Longgang District,Shenzhen 518111,China; 3.Affiliated Hospital,Hegang Health School of Heilongjiang Province,Hegang 154101,China; 4.Neurology Department,Affiliated Hospital,Jiamushi Medical Collgeg of Heilongjiang Province,Jiamushi 154000,China

收稿日期:1900-01-01 出版日期:2001-10-10 发布日期:2001-10-10

Report of a Big Family of Marinesco-Sjögren Syndrome in 11 Case of Five Generation with X-Linked Recessive Inheritance

Received:1900-01-01 Online:2001-10-10 Published:2001-10-10

摘要/Abstract

摘要： 报告一个Marinesco-Sj?gren综合征(MSS)的大家系.通过家系调查和查体发现MSS患者11例,均为男性,已死亡7例,死亡年龄为15～20岁.患者均具有先天性白内障,智能发育迟滞、小脑性共济失调及骨骼畸形等征候.存活4例还伴有FSH水平增高,LH及T水平降低.结论认为该MSS家系为X连锁隐性遗传。
Abstract:A big family of Marinesco-Sjögren Syndrome with X-Linked recessive inheritance is reported in the paper.We discovered 11 Patients with MSS by family line inheritance and somatoscopy.These Patients were aged from 15 to 20 years old when they died with clinic feature of congenital cataract,mental retardation,cerebellar ataxia and skeleton deformity;4 patients survived,but showed high level of FSH plasme and low level of LH and T.is concluded that this is a MSS family X-Linked recessive inheritance.

关键词: 系谱调查, X连锁隐性遗传, Marinesco-Sjö, gren 综合征(MSS)

邰风，于丽，赵洪祥，王明礼. X连锁隐性遗传性Marinesco-Sjögren综合征一家系五代11例报告[J]. 遗传, 2001, 23(5): 409-741.

TAI Feng, YU Li, ZHAO Hong-xiang, WANG Ming-li. Report of a Big Family of Marinesco-Sjögren Syndrome in 11 Case of Five Generation with X-Linked Recessive Inheritance[J]. HEREDITAS, 2001, 23(5): 409-741.