t (3; 22)(q21;q12) in a pregnant woman with two abortions and postnatal death of one offspring

Publish Year: 1386
نوع سند: مقاله ژورنالی
زبان: English
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شناسه ملی سند علمی:

JR_IJRM-5-3_008

تاریخ نمایه سازی: 16 شهریور 1395

Abstract:

Background: Carriers of translocations may have an increased risk of an unbalanced progeny due to imbalances and delays in meiosis.Case: A 24-year-old pregnant Iranian female was referred to the Genetic Department ofYazd Clinical and Research Centre for Infertility because of her pregnancy history. Shehad three previous pregnancies, two of which ended in abortion. The one live born infant was a girl who had multiple abnormalities and died when she was 11 days old.The cytogenetic analysis showed that the woman is a carrier of chromosomaltranslocation 46, XX, t (3; 22) (q21; q12), while her husband’s karyotype was found to be normal. The karyotype of her mother showed the same translocation. The risk offurther miscarriages was high, and the proband was monitored closely during her pregnancy. After nine months of pregnancy, a normal baby girl weighted 3460 gr wasdelivered by Caesarean section. Three hours after birth, the baby suffered from jaundice and respiratory distress. The baby’s phenotype was normal. She received routinetreatment successfully and after 15 days she was discharged from the hospital in a good condition. The baby’s karyotype showed the same translocation as her mother and grandmother. Conclusion: To our knowledge, no translocation with such breakpoints t (3; 22) (q21; q12) has been described previously in the women with RPL.

Authors

Zia Eslami

Department of Pediatric, Yazd Shahid Sadoughi University of Medical Sciences, Yazd, Iran

Mohammad Hasan Sheikhha

Department of Genetics, Research and Clinical Centre for Infertility, Yazd Shahid Sadoughi University of Medical Sciences, Yazd, Iran.

Seyed Mehdi Kalantar

Department of Genetics, Research and Clinical Centre for Infertility, Yazd Shahid Sadoughi University of Medical Sciences, Yazd, Iran.

Seyed Mohammad Seyedhasani

Department of Genetics, Research and Clinical Centre for Infertility, Yazd Shahid Sadoughi University of Medical Sciences, Yazd, Iran.