A novel interstitial deletion of chromosome 2q21.1‐q23.3: Case report and literature review
Abstract Background Interstitial deletions of 2q are rare. Those that have been reported show varying clinical manifestations according to the size of the deletion and the genomic region involved. Method and Results We describe a preterm male harboring a novel interstitial deletion encompassing the...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2020-04-01
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| Series: | Molecular Genetics & Genomic Medicine |
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| Online Access: | https://doi.org/10.1002/mgg3.1135 |
| _version_ | 1797301048933613568 |
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| author | Bader Almuzzaini Nasser S. Alatwi Saif Alsaif Mohammed A. Al Balwi |
| author_facet | Bader Almuzzaini Nasser S. Alatwi Saif Alsaif Mohammed A. Al Balwi |
| author_sort | Bader Almuzzaini |
| collection | DOAJ |
| description | Abstract Background Interstitial deletions of 2q are rare. Those that have been reported show varying clinical manifestations according to the size of the deletion and the genomic region involved. Method and Results We describe a preterm male harboring a novel interstitial deletion encompassing the 2q21.2‐q23.3 region of 2q, a deletion that has not been described previously. The patient had multiple congenital anomalies including agenesis of the corpus callosum, congenital cardiac defects, bilateral hydronephrosis, spontaneous intestinal perforation, hypospadias and cryptorchidism, sacral dimple and rocker‐bottom feet. Array comparative genomic hybridization (aCGH) analysis revealed a de novo >18 Mb deletion at 2q21.1–q23.3, a region that included (605802, 611472 and 604593) OMIM genes. Conclusion To the best of our knowledge this is the first report of a de novo interstitial deletion at 2q21.1–q23.3 in which haploinsufficiency of dose‐sensitive genes is shown to contribute to the patient's phenotype. |
| first_indexed | 2024-03-07T23:16:46Z |
| format | Article |
| id | doaj.art-3882574da2e1481e8434fab2bfc78b3c |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-03-07T23:16:46Z |
| publishDate | 2020-04-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-3882574da2e1481e8434fab2bfc78b3c2024-02-21T10:29:43ZengWileyMolecular Genetics & Genomic Medicine2324-92692020-04-0184n/an/a10.1002/mgg3.1135A novel interstitial deletion of chromosome 2q21.1‐q23.3: Case report and literature reviewBader Almuzzaini0Nasser S. Alatwi1Saif Alsaif2Mohammed A. Al Balwi3Department of Medical Genomics Research King Abdullah International Medical Research Center Ministry of National Guard Health Affairs Riyadh Saudi ArabiaDepartment of Pathology and Laboratory Medicine King Abdulaziz Medical City Ministry of National Guard Health Affairs Riyadh Saudi ArabiaCollege of Medicine King Saud bin Abdulaziz University for Health Sciences Riyadh Saudi ArabiaDepartment of Medical Genomics Research King Abdullah International Medical Research Center Ministry of National Guard Health Affairs Riyadh Saudi ArabiaAbstract Background Interstitial deletions of 2q are rare. Those that have been reported show varying clinical manifestations according to the size of the deletion and the genomic region involved. Method and Results We describe a preterm male harboring a novel interstitial deletion encompassing the 2q21.2‐q23.3 region of 2q, a deletion that has not been described previously. The patient had multiple congenital anomalies including agenesis of the corpus callosum, congenital cardiac defects, bilateral hydronephrosis, spontaneous intestinal perforation, hypospadias and cryptorchidism, sacral dimple and rocker‐bottom feet. Array comparative genomic hybridization (aCGH) analysis revealed a de novo >18 Mb deletion at 2q21.1–q23.3, a region that included (605802, 611472 and 604593) OMIM genes. Conclusion To the best of our knowledge this is the first report of a de novo interstitial deletion at 2q21.1–q23.3 in which haploinsufficiency of dose‐sensitive genes is shown to contribute to the patient's phenotype.https://doi.org/10.1002/mgg3.11352q21.2‐q23.3array Comparative Genomic Hybridization (aCGH)deletion KIF5CInterstitial microdeletionMBD5ZEB2 |
| spellingShingle | Bader Almuzzaini Nasser S. Alatwi Saif Alsaif Mohammed A. Al Balwi A novel interstitial deletion of chromosome 2q21.1‐q23.3: Case report and literature review Molecular Genetics & Genomic Medicine 2q21.2‐q23.3 array Comparative Genomic Hybridization (aCGH) deletion KIF5C Interstitial microdeletion MBD5 ZEB2 |
| title | A novel interstitial deletion of chromosome 2q21.1‐q23.3: Case report and literature review |
| title_full | A novel interstitial deletion of chromosome 2q21.1‐q23.3: Case report and literature review |
| title_fullStr | A novel interstitial deletion of chromosome 2q21.1‐q23.3: Case report and literature review |
| title_full_unstemmed | A novel interstitial deletion of chromosome 2q21.1‐q23.3: Case report and literature review |
| title_short | A novel interstitial deletion of chromosome 2q21.1‐q23.3: Case report and literature review |
| title_sort | novel interstitial deletion of chromosome 2q21 1 q23 3 case report and literature review |
| topic | 2q21.2‐q23.3 array Comparative Genomic Hybridization (aCGH) deletion KIF5C Interstitial microdeletion MBD5 ZEB2 |
| url | https://doi.org/10.1002/mgg3.1135 |
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