A Robertsonian Translocation rob (14;15) (q10:q10) in a Patient with Recurrent Abortions: A Case Report
نویسندگان
چکیده
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.
منابع مشابه
A 21/22 Translocation in a Female with Repeated Abortions: A Case Report
Robertsonian translocations (RT’s) are present in 0.1% of the general population and 1% of the infertile population. Two types of RT’s occur more frequently than all others, being 45,XX,rob(13;14)(q10;q10) and 45,XX,rob(14;21)(q10;q10) respectively. In the present report, an uncommon RT in a female with spontaneous repeated abortions is reported. Cytogenetic analysis of a couple with repeated a...
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AIM The purpose of the present research was a presentation of case report of Robertsonian translocation composed of homologous chromosomes 21q;21q and reproductive risk found in the family affected by this type oftranslocation. METHODS Cytogenetic diagnosis has been done on chromosome preparations of lymphocytes cultured from peripheral blood by Moorhead method. RESULTS Analyses of cytogene...
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Short stature is an important clinical feature of Turner syndrome (TS). In this report, a girl with short stature suspected to have Turner syndrome underwent cytogenetic analysis, which confirmd Turner syndrome by observing sex chromosomal monosomy using the karyotype test. In addition to Turner syndrome, Robertsonian (ROB) translocation t(13;14) was detected. As recommended by a genetic counse...
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BACKGROUND Robertsonian translocations are structural chromosomal abnormalities caused by fusion of two acrocentric chromosomes. In carriers of such translocations, different modes of segregations would result in the formation of either balanced (alternate segregation mode) or unbalanced (adjacent 1, adjacent 2, and 3:1 segregation modes) gametes. In addition, there is an increased risk for imp...
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