一名表型男性存在45,X/46,X dic (Y) 嵌合体。
45,X/46,X dic (Y) mosaicism in a phenotypic male.
作者信息
Batstone P J, Faed M J, Jung R T, Gosden J
机构信息
Department of Pathology, Ninewells Hospital and Medical School, Dundee.
出版信息
Arch Dis Child. 1991 Feb;66(2):252-3. doi: 10.1136/adc.66.2.252.
Abstract
Cytogenetic analysis, confirmed by in situ hybridisation studies, showed a mosaic 45,X/46,X dic (Y) (q12) karyotype in a 14 year old boy who was initially diagnosed as having Noonan's syndrome. He made an early response to recombinant growth hormone; this suggests that this treatment may improve final height.
摘要
细胞遗传学分析经原位杂交研究证实，一名14岁男孩的核型为45,X/46,X dic (Y) (q12) 嵌合体，该男孩最初被诊断为努南综合征。他对重组生长激素有早期反应；这表明这种治疗可能会改善最终身高。
Zotero 插件