A Maternally Inherited Rare Case with Chromoanagenesis-Related Complex Chromosomal Rearrangements and De Novo Microdeletions
Chromoanagenesis is a phenomenon of highly complex rearrangements involving the massive genomic shattering and reconstitution of chromosomes that has had a great impact on cancer biology and congenital anomalies. Complex chromosomal rearrangements (CCRs) are structural alterations involving three or...
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MDPI AG
2022-08-01
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| author | Jui-Hung Yen Shao-Yin Chu Yann-Jang Chen Yi-Chieh Su Chun-Ching Chien Chun-Ying Weng Pei-Yi Chen |
| author_facet | Jui-Hung Yen Shao-Yin Chu Yann-Jang Chen Yi-Chieh Su Chun-Ching Chien Chun-Ying Weng Pei-Yi Chen |
| author_sort | Jui-Hung Yen |
| collection | DOAJ |
| description | Chromoanagenesis is a phenomenon of highly complex rearrangements involving the massive genomic shattering and reconstitution of chromosomes that has had a great impact on cancer biology and congenital anomalies. Complex chromosomal rearrangements (CCRs) are structural alterations involving three or more chromosomal breakpoints between at least two chromosomes. Here, we present a 3-year-old boy exhibiting multiple congenital malformations and developmental delay. The cytogenetic analysis found a highly complex CCR inherited from the mother involving four chromosomes and five breakpoints due to forming four derivative chromosomes (2, 3, 6 and 11). FISH analysis identified an ultrarare derivative chromosome 11 containing three parts that connected the 11q telomere to partial 6q and 3q fragments. We postulate that this derivative chromosome 11 is associated with chromoanagenesis-like phenomena by which DNA repair can result in a cooccurrence of inter-chromosomal translocations. Additionally, chromosome microarray studies revealed that the child has one subtle maternal-inherited deletion at 6p12.1 and two de novo deletions at 6q14.1 and 6q16.1~6q16.3. Here, we present a familial CCR case with rare rearranged chromosomal structures and the use of multiple molecular techniques to delineate these genomic alterations. We suggest that chromoanagenesis may be a possible mechanism involved in the repair and reconstitution of these rearrangements with evidence for increasing genomic imbalances such as additional deletions in this case. |
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| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-09T04:34:13Z |
| publishDate | 2022-08-01 |
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| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-b7dffb46110146bd8e198249892c14e52023-12-03T13:31:48ZengMDPI AGDiagnostics2075-44182022-08-01128190010.3390/diagnostics12081900A Maternally Inherited Rare Case with Chromoanagenesis-Related Complex Chromosomal Rearrangements and De Novo MicrodeletionsJui-Hung Yen0Shao-Yin Chu1Yann-Jang Chen2Yi-Chieh Su3Chun-Ching Chien4Chun-Ying Weng5Pei-Yi Chen6Department of Molecular Biology and Human Genetics, Tzu Chi University, Hualien 97004, TaiwanGenetic Counseling Center, Hualien Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Hualien 97004, TaiwanInstitute of Clinical Medicine, National Yang Ming Chiao Tung University, Taipei 11221, TaiwanLaboratory of Medical Genetics, Genetic Counseling Center, Hualien Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Hualien 97004, TaiwanGenetic Counseling Center, Hualien Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Hualien 97004, TaiwanGenetic Counseling Center, Hualien Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Hualien 97004, TaiwanDepartment of Molecular Biology and Human Genetics, Tzu Chi University, Hualien 97004, TaiwanChromoanagenesis is a phenomenon of highly complex rearrangements involving the massive genomic shattering and reconstitution of chromosomes that has had a great impact on cancer biology and congenital anomalies. Complex chromosomal rearrangements (CCRs) are structural alterations involving three or more chromosomal breakpoints between at least two chromosomes. Here, we present a 3-year-old boy exhibiting multiple congenital malformations and developmental delay. The cytogenetic analysis found a highly complex CCR inherited from the mother involving four chromosomes and five breakpoints due to forming four derivative chromosomes (2, 3, 6 and 11). FISH analysis identified an ultrarare derivative chromosome 11 containing three parts that connected the 11q telomere to partial 6q and 3q fragments. We postulate that this derivative chromosome 11 is associated with chromoanagenesis-like phenomena by which DNA repair can result in a cooccurrence of inter-chromosomal translocations. Additionally, chromosome microarray studies revealed that the child has one subtle maternal-inherited deletion at 6p12.1 and two de novo deletions at 6q14.1 and 6q16.1~6q16.3. Here, we present a familial CCR case with rare rearranged chromosomal structures and the use of multiple molecular techniques to delineate these genomic alterations. We suggest that chromoanagenesis may be a possible mechanism involved in the repair and reconstitution of these rearrangements with evidence for increasing genomic imbalances such as additional deletions in this case.https://www.mdpi.com/2075-4418/12/8/1900complex chromosomal rearrangement (CCR)chromoanagenesischromoplexdevelopmental delaychromosome microarray analysis (CMA)cytogenetics |
| spellingShingle | Jui-Hung Yen Shao-Yin Chu Yann-Jang Chen Yi-Chieh Su Chun-Ching Chien Chun-Ying Weng Pei-Yi Chen A Maternally Inherited Rare Case with Chromoanagenesis-Related Complex Chromosomal Rearrangements and De Novo Microdeletions Diagnostics complex chromosomal rearrangement (CCR) chromoanagenesis chromoplex developmental delay chromosome microarray analysis (CMA) cytogenetics |
| title | A Maternally Inherited Rare Case with Chromoanagenesis-Related Complex Chromosomal Rearrangements and De Novo Microdeletions |
| title_full | A Maternally Inherited Rare Case with Chromoanagenesis-Related Complex Chromosomal Rearrangements and De Novo Microdeletions |
| title_fullStr | A Maternally Inherited Rare Case with Chromoanagenesis-Related Complex Chromosomal Rearrangements and De Novo Microdeletions |
| title_full_unstemmed | A Maternally Inherited Rare Case with Chromoanagenesis-Related Complex Chromosomal Rearrangements and De Novo Microdeletions |
| title_short | A Maternally Inherited Rare Case with Chromoanagenesis-Related Complex Chromosomal Rearrangements and De Novo Microdeletions |
| title_sort | maternally inherited rare case with chromoanagenesis related complex chromosomal rearrangements and de novo microdeletions |
| topic | complex chromosomal rearrangement (CCR) chromoanagenesis chromoplex developmental delay chromosome microarray analysis (CMA) cytogenetics |
| url | https://www.mdpi.com/2075-4418/12/8/1900 |
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