Balanced Chromosomal Rearrangement in Recurrent Spontaneous Abortions: A Case Report

Document Type : Case Report

Authors
1 Student Research Assembly, Mashhad University of Medical Sciences, Iran
2 Student Research Assembly, Mashhad University of Medical Sciences, Iran.
3 Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Iran
Abstract
One of the major causes of spontaneous abortion before the fourth month of pregnancy is chromosomal
abnormalities. We report an unusual case of a familial balanced chromosomal translocation in a consanguineous
couple who experienced 4 spontaneous abortions. Chromosomal studies were performed on the basis of Gbanding technique at high resolution and revealed 46, XX, t (16; 6) (p12; q26) and 46, XY, t (16; 6) (p12; q26)
in both partners, which induced such pregnancy complications.
Chromosomal balanced translocation is one of the most common causes of recurrent spontaneous abortions
(RSA). In such cases prenatal diagnosis (PND) during the 16th week of gestation is strongly recommended.
Keywords