本文關鍵詞：Y染色體多態(tài)性與臨床遺傳學效應的研究　出處：《中國婦幼保健》2013年25期 　論文類型：期刊論文

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【摘要】：目的:探討Y染色體多態(tài)性的臨床遺傳效應。方法:對因配偶自然流產史、育兒智力低下或本人發(fā)育異常、不育等進行遺傳咨詢的男性病例進行外周血淋巴細胞培養(yǎng)和G顯帶染色體核型分析。結果:檢出183例Y染色體呈多態(tài)性,其中148例46,XY,Y≥18;30例46,XY,Y≤21;3例46,X,Yqs;1例46,X,Yq-;1例46,X,Yp+。148例大Y病例中,91例與自然流產相關;34例與配偶不良孕史相關,包括:神經管畸形、唇腭裂、消化道畸形、心臟畸形等;7例智力低下;6例性腺發(fā)育不良;10例不育。小Y病例主要與流產、智力低下、性腺發(fā)育不良、無精子癥等相關。結論:Y染色體的多態(tài)性具有臨床遺傳效應,它與流產、發(fā)育異常及智力低下有關。
[Abstract]:Objective: to investigate the clinical genetic effect of Y chromosome polymorphism. The peripheral blood lymphocyte culture and karyotype analysis of G banding chromosomes in male patients with infertility and other genetic counseling were carried out. Results: 183 cases of Y chromosome were found to be polymorphic, of which 148 cases were 46 XY cases. Y 鈮，

本文編號：1412920