Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review
Abstract Background Duplications or deletions in the 12q13.13 region are rare. Only scattered cases with duplications and/or deletions in this region have been reported in the literature or in online databases. Owing to the limited number of patients with genomic alteration within this region and la...
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| Format: | Article |
| Language: | English |
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BMC
2017-06-01
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| Series: | Molecular Cytogenetics |
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| Online Access: | http://link.springer.com/article/10.1186/s13039-017-0326-4 |
| _version_ | 1828832251552464896 |
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| author | Jie Hu Zhishuo Ou Elena Infante Sally J. Kochmar Suneeta Madan-Khetarpal Lori Hoffner Shafagh Parsazad Urvashi Surti |
| author_facet | Jie Hu Zhishuo Ou Elena Infante Sally J. Kochmar Suneeta Madan-Khetarpal Lori Hoffner Shafagh Parsazad Urvashi Surti |
| author_sort | Jie Hu |
| collection | DOAJ |
| description | Abstract Background Duplications or deletions in the 12q13.13 region are rare. Only scattered cases with duplications and/or deletions in this region have been reported in the literature or in online databases. Owing to the limited number of patients with genomic alteration within this region and lack of systematic analysis of these patients, the common clinical manifestation of these patients has remained elusive. Case presentation Here we report an 802 kb duplication in the 12q13.13q13.13 region in a 14 year-old male who presented with dysmorphic features, developmental delay (DD), mild intellectual disability (ID) and mild deformity of digits. Comparing the phenotype of our patient with those of reported patients, we find that patients with the 12q13.13 duplication or the deletion share similar phenotypes, including dysmorphic facies, abnormal nails, intellectual disability, and deformity of digits or limbs. However, patients with the deletion appear to have more severe deformity of digits or limbs. Conclusions Deletion and duplication of the 12q13.13 region may represent novel contiguous gene alteration syndromes. All seven reported 12q13.13 deletions and three of four duplications are de novo and vary in size. Therefore, these genomic alterations are not due to non-allelic homologous recombination. |
| first_indexed | 2024-12-12T16:50:16Z |
| format | Article |
| id | doaj.art-689732d7a0e54d4bbc791b12db48cad4 |
| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-12-12T16:50:16Z |
| publishDate | 2017-06-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj.art-689732d7a0e54d4bbc791b12db48cad42022-12-22T00:18:23ZengBMCMolecular Cytogenetics1755-81662017-06-011011710.1186/s13039-017-0326-4Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature reviewJie Hu0Zhishuo Ou1Elena Infante2Sally J. Kochmar3Suneeta Madan-Khetarpal4Lori Hoffner5Shafagh Parsazad6Urvashi Surti7Center for Clinical Genetics and Genomics, Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMCCenter for Clinical Genetics and Genomics, Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMCDepartment of Genetics, Children’s Hospital of Pittsburgh of UPMCCenter for Clinical Genetics and Genomics, Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMCDepartment of Genetics, Children’s Hospital of Pittsburgh of UPMCDepartment of Pathology, University of Pittsburgh School of MedicineCenter for Clinical Genetics and Genomics, Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMCCenter for Clinical Genetics and Genomics, Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMCAbstract Background Duplications or deletions in the 12q13.13 region are rare. Only scattered cases with duplications and/or deletions in this region have been reported in the literature or in online databases. Owing to the limited number of patients with genomic alteration within this region and lack of systematic analysis of these patients, the common clinical manifestation of these patients has remained elusive. Case presentation Here we report an 802 kb duplication in the 12q13.13q13.13 region in a 14 year-old male who presented with dysmorphic features, developmental delay (DD), mild intellectual disability (ID) and mild deformity of digits. Comparing the phenotype of our patient with those of reported patients, we find that patients with the 12q13.13 duplication or the deletion share similar phenotypes, including dysmorphic facies, abnormal nails, intellectual disability, and deformity of digits or limbs. However, patients with the deletion appear to have more severe deformity of digits or limbs. Conclusions Deletion and duplication of the 12q13.13 region may represent novel contiguous gene alteration syndromes. All seven reported 12q13.13 deletions and three of four duplications are de novo and vary in size. Therefore, these genomic alterations are not due to non-allelic homologous recombination.http://link.springer.com/article/10.1186/s13039-017-0326-412q13.13 Microdeletion/MicroduplicationArray CGHHOXCSPT7SP1 |
| spellingShingle | Jie Hu Zhishuo Ou Elena Infante Sally J. Kochmar Suneeta Madan-Khetarpal Lori Hoffner Shafagh Parsazad Urvashi Surti Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review Molecular Cytogenetics 12q13.13 Microdeletion/Microduplication Array CGH HOXC SPT7 SP1 |
| title | Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review |
| title_full | Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review |
| title_fullStr | Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review |
| title_full_unstemmed | Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review |
| title_short | Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review |
| title_sort | chromosome 12q13 13q13 13 microduplication and microdeletion a case report and literature review |
| topic | 12q13.13 Microdeletion/Microduplication Array CGH HOXC SPT7 SP1 |
| url | http://link.springer.com/article/10.1186/s13039-017-0326-4 |
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