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Published on: January 28, 2014
Complex Chromosomal Rearrangement: A Case Report to Emphasize the Need for Parental Karyotyping and Genetic
Prachi Sinkar1, Sneha Ramesh Devi1
1Department of Genetics, Thyrocare Technologies Limited, Navi Mumbai, Maharashtra, India.
Abstract:
Complex chromosomal rearrangements (CCRs) are rare structural rearrangements which involve at least three or more chromosomal breaks. The present report emphasizes the significance of parental karyotyping and the need of genetic counseling for couples with bad obstetric history (repeated abortions/miscarriages). The report includes the cytogenetic assessment of the proband and the mother, carried out at our accredited laboratory. The karyotype analysis of the proband revealed an apparently balanced translocation, identified to have been familially inherited from the mother having CCRs with double two-way translocations involving four chromosomes.
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