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

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/m...

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Detalles Bibliográficos
Autores principales: Sinkar, Prachi, Devi, Sneha Ramesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7295250/
https://www.ncbi.nlm.nih.gov/pubmed/32577072
http://dx.doi.org/10.4103/jhrs.JHRS_145_19
Descripción
Sumario: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.