一名复发性流产患者的罗伯逊易位rob(14;15)(q10:q10)：病例报告
A Robertsonian Translocation rob (14;15) (q10:q10) in a Patient with Recurrent Abortions: A Case Report.
作者信息
Ananthapur Venkateshwari, Avvari Srilekha, Tella Sunitha, Nallari Pratibha, Akka Jyothy
机构信息
Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, India.
出版信息
J Reprod Infertil. 2010 Oct;11(3):197-200.
INTRODUCTION
Robertsonian translocation is one of the major chromosomal rearrangements with a prevalence rate of 0.1% of the general population and 1% of the infertile population. In this report, we present a nonhomologous Robertsonian translocation in a female patient with a history of repeated abortions.
CASE PRESENTATION
A couple with the complaint of repeated abortions was admitted in the Institute of Genetics and Hospital for Genetic Diseases in Begumpet, Hyderabad, India for cytogenetic evaluation. Chromosomal analysis of the couple revealed an abnormal karyotype in the female partner with 45, XX, rob (14, 15) (q10; q10) chromosomal constitution, while the male partner showed normal 46, XY karyotype.
CONCLUSION
The cytogenetic analysis of couples with repeated abortions is mandatory to identify any probable chromosomal aberrations. Prenatal diagnosis should be offered to couples with repeated abortions in the case of future pregnancies.
引言
罗伯逊易位是主要的染色体重排之一，在普通人群中的发生率为0.1%，在不育人群中的发生率为1%。在本报告中，我们呈现了一名有反复流产史的女性患者的非同源罗伯逊易位情况。
病例报告
一对因反复流产前来就诊的夫妇入住了印度海得拉巴贝根佩特的遗传学研究所和遗传病医院进行细胞遗传学评估。对这对夫妇的染色体分析显示，女性伴侣的核型异常，染色体组成为45, XX, rob (14, 15) (q10; q10)，而男性伴侣的核型正常，为46, XY。
结论
对有反复流产史的夫妇进行细胞遗传学分析对于识别任何可能的染色体畸变至关重要。对于未来怀孕的有反复流产史的夫妇，应提供产前诊断。
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