Volume 5, Issue 4 (2020)                   SJMR 2020, 5(4): 159-164 | Back to browse issues page


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Mortazavi S M, Saremi A, Vafaee A, Behjati F. De novo Reciprocal Translocation t (2;10) (q33; q11.2) With Fetal Hydrothorax: A Case Report. SJMR. 2020; 5 (4) :159-164
URL: http://saremjrm.com/article-1-201-en.html
1- Sarem Fertility & Infertility Research Center (SAFIR), Sarem Women’s Hospital, Iran University of Medical Sciences (IUMS), Tehran, Iran.
2- Sarem Fertility & Infertility Research Center (SAFIR) & Sarem Cell Research Center (SCRC), Sarem Women’s Hospital, Iran University of Medical Sciences (IUMS), Tehran, Iran.
3- Sarem Fertility & Infertility Research Center (SAFIR) & Sarem Cell Research Center (SCRC), Sarem Women’s Hospital, Iran University of Medical Sciences (IUMS), Tehran, Iran. & Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Abstract:   (442 Views)
Introduction: Fetal hydrothorax or lymphatic fluid accumulation is a rare congenital disorder in the fetal period that can tend to hydrops fetalis or premature labor if left untreated. Timely diagnosis and thoracentesis or thoracoamniotic shunt during an embryonic period can reduce these complications. Fetal hydrothorax has different etiology, such as chromosomal abnormalities. We report this case study of a fetus with hydrothorax and chromosomal translocation t (2;10) (q33; q11.2) de novo.
Case presentation: A pregnant woman with a 29-week gestational age, following fetal sonography showed bilateral hydrothorax with mediastinum shifts to the left side. She had no history of any specific disease, and other maternal and fetal screenings were normal in terms of anomalies. With regards to the high volume of pleural effusion and shift of heart and mediastinum to the left hemithorax, thoracentesis in the fetus was done and the fluid inside the pleura was drained. The karyotype of the amniotic fluid showed a translocation between chromosomes 2 and 10 as t (2; 10) (q33; q11.2) de novo.
Conclusion: Chromosomal abnormalities are one of the important causes of hydrothorax in the fetal period. Aneuploidy and in particular 45, X are the most common causes in the development of fetal hydrothorax. Translocation t (2;10) (q33; q11.2) is a rare chromosomal disorder and was arisen de novo in the fetus. Both parents had normal karyotypes. It is possible that mutations of genes in the translocation breakpoint loci or other chromosomes could have contributed to this anomaly in the fetus. Therefore, in the case of fetal hydrothorax, both numerical and structural chromosome abnormalities should be investigated.
 
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Article Type: Case Report | Subject: Sterility Genetical Disorders
Received: 2021/08/31 | Accepted: 2021/08/31 | Published: 2021/08/31

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