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...
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2015/321014 |
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| author | Hannie Kartapradja Nanis Sacharina Marzuki Mark D. Pertile David Francis Lita Putri Suciati Helena Woro Anggaratri Debby Dwi Ambarwati Firman Prathama Idris Harry Lesmana Hidayat Trimarsanto Chrysantine Paramayuda Alida Roswita Harahap |
| author_facet | Hannie Kartapradja Nanis Sacharina Marzuki Mark D. Pertile David Francis Lita Putri Suciati Helena Woro Anggaratri Debby Dwi Ambarwati Firman Prathama Idris Harry Lesmana Hidayat Trimarsanto Chrysantine Paramayuda Alida Roswita Harahap |
| author_sort | Hannie Kartapradja |
| collection | DOAJ |
| 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 | Article |
| id | doaj-art-c7843dd2cd7d48f6aecf4235717faff5 |
| institution | OA Journals |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-c7843dd2cd7d48f6aecf4235717faff52025-08-20T02:20:06ZengWileyCase Reports in Genetics2090-65442090-65522015-01-01201510.1155/2015/321014321014Exceptional Complex Chromosomal Rearrangements in Three GenerationsHannie Kartapradja0Nanis Sacharina Marzuki1Mark D. Pertile2David Francis3Lita Putri Suciati4Helena Woro Anggaratri5Debby Dwi Ambarwati6Firman Prathama Idris7Harry Lesmana8Hidayat Trimarsanto9Chrysantine Paramayuda10Alida Roswita Harahap11Eijkman Institute for Molecular Biology, Jl. Diponegoro 69, Jakarta 10430, IndonesiaEijkman Institute for Molecular Biology, Jl. Diponegoro 69, Jakarta 10430, IndonesiaVictorian Clinical Genetics Services (VCGS), Royal Children’s Hospital, Flemington Road, Melbourne, VIC 3052, AustraliaVictorian Clinical Genetics Services (VCGS), Royal Children’s Hospital, Flemington Road, Melbourne, VIC 3052, AustraliaEijkman Institute for Molecular Biology, Jl. Diponegoro 69, Jakarta 10430, IndonesiaEijkman Institute for Molecular Biology, Jl. Diponegoro 69, Jakarta 10430, IndonesiaEijkman Institute for Molecular Biology, Jl. Diponegoro 69, Jakarta 10430, IndonesiaEijkman Institute for Molecular Biology, Jl. Diponegoro 69, Jakarta 10430, IndonesiaEijkman Institute for Molecular Biology, Jl. Diponegoro 69, Jakarta 10430, IndonesiaEijkman Institute for Molecular Biology, Jl. Diponegoro 69, Jakarta 10430, IndonesiaEijkman Institute for Molecular Biology, Jl. Diponegoro 69, Jakarta 10430, IndonesiaEijkman Institute for Molecular Biology, Jl. Diponegoro 69, Jakarta 10430, IndonesiaWe 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.http://dx.doi.org/10.1155/2015/321014 |
| spellingShingle | Hannie Kartapradja Nanis Sacharina Marzuki Mark D. Pertile David Francis Lita Putri Suciati Helena Woro Anggaratri Debby Dwi Ambarwati Firman Prathama Idris Harry Lesmana Hidayat Trimarsanto Chrysantine Paramayuda Alida Roswita Harahap Exceptional Complex Chromosomal Rearrangements in Three Generations Case Reports in Genetics |
| 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 |
| url | http://dx.doi.org/10.1155/2015/321014 |
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