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Case Reports
. 2020 Jan-Mar;13(1):68-70.
doi: 10.4103/jhrs.JHRS_145_19. Epub 2020 Apr 7.

Complex Chromosomal Rearrangement: A Case Report to Emphasize the Need for Parental Karyotyping and Genetic Counseling

Prachi Sinkar  1 , Sneha Ramesh Devi  1
Affiliations
Case Reports

Complex Chromosomal Rearrangement: A Case Report to Emphasize the Need for Parental Karyotyping and Genetic Counseling

Prachi Sinkar et al. J Hum Reprod Sci. 2020 Jan-Mar.

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.

Keywords: Bad obstetric history; genetic counseling; karyotyping; translocation.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Proband with familial translocation inherited from the mother
Figure 2
Figure 2
Double two-way translocation in the mother of proband
See this image and copyright information in PMC

References

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