en
1726-7536
1735-8507
69
2139
288
gregorian
2010
9
14
11
3
online
1
fulltext
en
23926490
A Robertsonian Translocation rob (14;15) (q10:q10) in a Patient with Recurrent Abortions: A Case Report
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.
بررسی سیتوژنتیکی، مشاوره ژنتیکی، سقط مکرر، جابجایی کروموزومی رابرتسونی، بازآرایی نابجای کروموزومی
Chromosomal Aberration, Cytogenetic analysis, Genetic counseling, Recurrent abortion, Robertsonian translocations
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https://www.jri.ir/article/433
https://www.jri.ir/documents/fullpaper/en/433.pdf
AnanthapurVenkateshwariInstitute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, Indiavenkateshwari@yahoo.com1140
AvvariSrilekhaInstitute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, India839
TellaSunithaInstitute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, Indiaتلاسونيتا840
NallariPratibhaDepartment of Genetics, Osmania University, Hyderabad, Indiaنالاريپراتيبها841
AkkaJyothyInstitute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, India842