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目的与方法先天性卵巢发育不全综合征(Turner syndrome)是女性较常见的性染色体异常综合征。9号染色体臂间倒位是一种常见的染色体结构异常,但是关于9号染色体臂间倒位是否具有遗传效应,一直以来都有争议。一般认为9号染色体臂间倒位可能是一种正常的多态性现象,但是近年来,9号染色体臂间倒位具有遗传效应的报道逐渐增多,染色体臂间倒位可能具有遗传效应,由于其结构的异常,它可能在一定的诱因存在下会对减数分裂时同源染色体的分离产生一定的影响,临床可见不良孕产史(包括反复流产、胎停育、死胎、早产等)。结果与结论本例患儿的核型为45,X,inv(9)(pter→p13∷q22→p13∷q22→qter),Turner综合征伴9号染色体臂间倒位极为少见,检索国内文献仅见两例[4,7]。由于9号染色体的臂间倒位一般携带者的表型可以是正常的,但临床可见婚后不孕、早期流产、反复流产或胎停育等现象的发生。虽然现在对其所具有的遗传效应仍有争议,但是应该引起产前诊断部门重视,继续进一步的研究。因此建议对携带者应做产前诊断,在产前测定胎儿的染色体,可以避免异常染色体的胎儿出生,减少家庭和社会的巨大压力,对提高我国的人口素质具有重要的积极的意义。
Objectives and Methods Turner syndrome is a common female sex disorder syndrome. It is a common chromosomal abnormality that the inter-arm inversions of chromosome 9 have been reported. However, it has long been debated whether the inter-arm inversions on chromosome 9 have genetic effects. It is generally believed that the internodal inversion on chromosome 9 may be a normal polymorphism. However, in recent years, there has been a growing number of reports of genetic effects of inversions on chromosome 9. Inversion of chromosome arm may have a genetic effect. As a result of Its structural abnormalities, it may be in the presence of a certain incentives meiosis homologous chromosome segregation have a certain impact, the clinical visible adverse pregnancy history (including recurrent miscarriage, childbirth, stillbirth, premature birth, etc.). RESULTS AND CONCLUSION: The karyotype in this case was 45, X, inv (9) (pter → p13 :: q22 → p13 :: q22 → qter), and Turner Syndrome with chromosome 9 inter-arm inversion was extremely rare. Only two cases were seen [4,7]. As chromosome 9 arm inversion in general carriers of the phenotype can be normal, but clinically seen infertility after marriage, early abortion, recurrent miscarriage or births and other phenomena. Although the genetic effects it has are still controversial, it should cause prenatal diagnosis departments to pay attention to continue further research. Therefore, it is suggested that prenatal diagnosis should be done on the carriers. Prenatal determination of fetal chromosomes can prevent the birth of fetuses with abnormal chromosomes and reduce the enormous pressure of families and society, which is of great significance to improving the population quality of our country.