%0 Journal Article
%T X连锁隐性遗传性Marinesco-Sj gren综合征一家系五代11例报告 Report of a Big Family of Marinesco-Sj gren Syndrome in 11 Case of Five Generation with X-Linked Recessive Inheritance
%A 邰风
%A 于丽
%A 赵洪祥
%A 王明礼TAI Feng
%A YU Li
%A ZHAO Hong-xiang
%A WANG Ming-li
%J 遗传
%D 2001
%I 
%X 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-Sj gren 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.
%K Marinesco-Sj
%K gren
%K 综合征(MSS)
%K X连锁隐性遗传
%K 系谱调查
%U http://www.alljournals.cn/get_abstract_url.aspx?pcid=90BA3D13E7F3BC869AC96FB3DA594E3FE34FBF7B8BC0E591&jid=3E23F50E071DF18E21B2F5AEE4F1FA5E&aid=12CE5F1B44B506076CF349DAD86883EB&yid=14E7EF987E4155E6&vid=EA389574707BDED3&iid=94C357A881DFC066&sid=0493D643315CD829&eid=6D237E9625601349&journal_id=0253-9772&journal_name=遗传&referenced_num=0&reference_num=0