重複流產夫婦的異常染色體和其遺傳

Abstract

以吉氏紋帶染色法及固有異染色質染色法檢查重複性流產夫婦的核型及異常染色體的遺傳。 在35位重複性流產夫婦檢樣中發現兩例平衡的染色體相互轉位核型:(a) 46，XY，t(3；16)(3qter→3p2l::l6p12 →l6pter;l6qter →16p12::3p21→3pter)；及 (b) 46,XY,t(7;18)(7qter →7p14::18q23→l8qter;l8pter →18q23::7p14 →7pter)。 重複性流產夫婦中核型異常的頻率為 5 . 7 ％。配偶之一具有異常核型時，女性平衡轉位攜帶者的家庭較男性攜帶者的家庭有較高的懷孕成功率。 另一對無流產記錄的夫婦，其妻及女胎具平衡羅氏轉位核型 45 , XX, t (14 ; 21) (14qter→cen →21qter ) 。具羅氏轉位 t ( 14q2lq ）的家庭中，平衡轉位核型的子女多於正常核型者。 文中討論異常染色體的形成，重複性流產與核型異常，平衡轉位染色體攜帶者的性別與懷孕成功率及異常染色體的遺傳，並與相關文獻綜合比較。

G-banding and C-bonding techniques were employed to study the karyotype and the transmission of the aberrant chromosomes in recurrent aborters. Two cases of balanced autosomal reciprocal translocations were discovered: (a). 46,XY,t(3;16)(3qter →3p2l::l6p12 →l6pter;l6qter →16p12::3p21 →3pter) and (b). 46,XY,t(7;18)(7qter →7p14::18q23 →l8qter;l8pter →18q23::7p14 →7pter) in 35 studies. The frequency of chromosome anomalies in recurrent aborters is 5.7%. Female carriers of the aberrant chromosome revealed higher reproductive successes than male carriers. In a family with no spontaneous abortions, both the mother and the female fetus were carriers of a Robertsonian translocation chromosome, t(14q21q). Their karyotype is 45,XX,t(14;21)(l4qter-cen-2lqter). There were more balanced carriers than normal ones in the family with Rob.t(14q21q). The formation of aberrant chromosomes and chromosome anomaly in recurrent aborters were discussed. The reproductive performance and inheritance of the aberrant chromosomes in male and female carriers were analyzed and comparisons were made with others.