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Exceptional Complex Chromosomal Rearrangements in Three Generations
We report an exceptional complex chromosomal rearrangement (CCR) found in three individuals in a family that involves 4 chromosomes with 5 breakpoints. The CCR was ascertained in a phenotypically abnormal newborn with additional chromosomal material on the short arm of chromosome 4. Maternal karyoty...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4333187/ https://www.ncbi.nlm.nih.gov/pubmed/25722897 http://dx.doi.org/10.1155/2015/321014 |
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author | Kartapradja, Hannie Marzuki, Nanis Sacharina Pertile, Mark D. Francis, David Suciati, Lita Putri Anggaratri, Helena Woro Ambarwati, Debby Dwi Idris, Firman Prathama Lesmana, Harry Trimarsanto, Hidayat Paramayuda, Chrysantine Harahap, Alida Roswita |
author_facet | Kartapradja, Hannie Marzuki, Nanis Sacharina Pertile, Mark D. Francis, David Suciati, Lita Putri Anggaratri, Helena Woro Ambarwati, Debby Dwi Idris, Firman Prathama Lesmana, Harry Trimarsanto, Hidayat Paramayuda, Chrysantine Harahap, Alida Roswita |
author_sort | Kartapradja, Hannie |
collection | PubMed |
description | We report an exceptional complex chromosomal rearrangement (CCR) found in three individuals in a family that involves 4 chromosomes with 5 breakpoints. The CCR was ascertained in a phenotypically abnormal newborn with additional chromosomal material on the short arm of chromosome 4. Maternal karyotyping indicated that the mother carried an apparently balanced CCR involving chromosomes 4, 6, 11, and 18. Maternal transmission of the derivative chromosome 4 resulted in partial trisomy for chromosomes 6q and 18q and a partial monosomy of chromosome 4p in the proband. Further family studies found that the maternal grandmother carried the same apparently balanced CCR as the proband's mother, which was confirmed using the whole chromosome painting (WCP) FISH. High resolution whole genome microarray analysis of DNA from the proband's mother found no evidence for copy number imbalance in the vicinity of the CCR translocation breakpoints, or elsewhere in the genome, providing evidence that the mother's and grandmother's CCRs were balanced at a molecular level. This structural rearrangement can be categorized as an exceptional CCR due to its complexity and is a rare example of an exceptional CCR being transmitted in balanced and/or unbalanced form across three generations. |
format | Online Article Text |
id | pubmed-4333187 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Hindawi Publishing Corporation |
record_format | MEDLINE/PubMed |
spelling | pubmed-43331872015-02-26 Exceptional Complex Chromosomal Rearrangements in Three Generations Kartapradja, Hannie Marzuki, Nanis Sacharina Pertile, Mark D. Francis, David Suciati, Lita Putri Anggaratri, Helena Woro Ambarwati, Debby Dwi Idris, Firman Prathama Lesmana, Harry Trimarsanto, Hidayat Paramayuda, Chrysantine Harahap, Alida Roswita Case Rep Genet Case Report We report an exceptional complex chromosomal rearrangement (CCR) found in three individuals in a family that involves 4 chromosomes with 5 breakpoints. The CCR was ascertained in a phenotypically abnormal newborn with additional chromosomal material on the short arm of chromosome 4. Maternal karyotyping indicated that the mother carried an apparently balanced CCR involving chromosomes 4, 6, 11, and 18. Maternal transmission of the derivative chromosome 4 resulted in partial trisomy for chromosomes 6q and 18q and a partial monosomy of chromosome 4p in the proband. Further family studies found that the maternal grandmother carried the same apparently balanced CCR as the proband's mother, which was confirmed using the whole chromosome painting (WCP) FISH. High resolution whole genome microarray analysis of DNA from the proband's mother found no evidence for copy number imbalance in the vicinity of the CCR translocation breakpoints, or elsewhere in the genome, providing evidence that the mother's and grandmother's CCRs were balanced at a molecular level. This structural rearrangement can be categorized as an exceptional CCR due to its complexity and is a rare example of an exceptional CCR being transmitted in balanced and/or unbalanced form across three generations. Hindawi Publishing Corporation 2015 2015-02-03 /pmc/articles/PMC4333187/ /pubmed/25722897 http://dx.doi.org/10.1155/2015/321014 Text en Copyright © 2015 Hannie Kartapradja et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Kartapradja, Hannie Marzuki, Nanis Sacharina Pertile, Mark D. Francis, David Suciati, Lita Putri Anggaratri, Helena Woro Ambarwati, Debby Dwi Idris, Firman Prathama Lesmana, Harry Trimarsanto, Hidayat Paramayuda, Chrysantine Harahap, Alida Roswita Exceptional Complex Chromosomal Rearrangements in Three Generations |
title | Exceptional Complex Chromosomal Rearrangements in Three Generations |
title_full | Exceptional Complex Chromosomal Rearrangements in Three Generations |
title_fullStr | Exceptional Complex Chromosomal Rearrangements in Three Generations |
title_full_unstemmed | Exceptional Complex Chromosomal Rearrangements in Three Generations |
title_short | Exceptional Complex Chromosomal Rearrangements in Three Generations |
title_sort | exceptional complex chromosomal rearrangements in three generations |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4333187/ https://www.ncbi.nlm.nih.gov/pubmed/25722897 http://dx.doi.org/10.1155/2015/321014 |
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