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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Autores principales: Sinkar, Prachi, Devi, Sneha Ramesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
Materias:
Case Report
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
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author Sinkar, Prachi
Devi, Sneha Ramesh
author_facet Sinkar, Prachi
Devi, Sneha Ramesh
author_sort Sinkar, Prachi
collection PubMed
description 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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spelling pubmed-72952502020-06-22 Complex Chromosomal Rearrangement: A Case Report to Emphasize the Need for Parental Karyotyping and Genetic Counseling Sinkar, Prachi Devi, Sneha Ramesh J Hum Reprod Sci Case Report 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. Wolters Kluwer - Medknow 2020 2020-04-07 /pmc/articles/PMC7295250/ /pubmed/32577072 http://dx.doi.org/10.4103/jhrs.JHRS_145_19 Text en Copyright: © 2020 Journal of Human Reproductive Sciences http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Sinkar, Prachi
Devi, Sneha Ramesh
Complex Chromosomal Rearrangement: A Case Report to Emphasize the Need for Parental Karyotyping and Genetic Counseling
title Complex Chromosomal Rearrangement: A Case Report to Emphasize the Need for Parental Karyotyping and Genetic Counseling
title_full Complex Chromosomal Rearrangement: A Case Report to Emphasize the Need for Parental Karyotyping and Genetic Counseling
title_fullStr Complex Chromosomal Rearrangement: A Case Report to Emphasize the Need for Parental Karyotyping and Genetic Counseling
title_full_unstemmed Complex Chromosomal Rearrangement: A Case Report to Emphasize the Need for Parental Karyotyping and Genetic Counseling
title_short Complex Chromosomal Rearrangement: A Case Report to Emphasize the Need for Parental Karyotyping and Genetic Counseling
title_sort complex chromosomal rearrangement: a case report to emphasize the need for parental karyotyping and genetic counseling
topic Case Report
url 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
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