A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms. We describe nine affected individuals, including six probands: two with de novo deletions, two who inherited the deletion from an affected parent and two with unknown inher...
| Príomhchruthaitheoirí: | , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formáid: | Journal article |
| Teanga: | English |
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2008
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| _version_ | 1826281903942008832 |
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| author | Sharp, A Mefford, H Li, K Baker, C Skinner, C Stevenson, R Schroer, R Novara, F De Gregori, M Ciccone, R Broomer, A Casuga, I Wang, Y Xiao, C Barbacioru, C Gimelli, G Bernardina, B Torniero, C Giorda, R Regan, R Murday, V Mansour, S Fichera, M Castiglia, L Failla, P |
| author_facet | Sharp, A Mefford, H Li, K Baker, C Skinner, C Stevenson, R Schroer, R Novara, F De Gregori, M Ciccone, R Broomer, A Casuga, I Wang, Y Xiao, C Barbacioru, C Gimelli, G Bernardina, B Torniero, C Giorda, R Regan, R Murday, V Mansour, S Fichera, M Castiglia, L Failla, P |
| author_sort | Sharp, A |
| collection | OXFORD |
| description | We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms. We describe nine affected individuals, including six probands: two with de novo deletions, two who inherited the deletion from an affected parent and two with unknown inheritance. The proximal breakpoint of the largest deletion is contiguous with breakpoint 3 (BP3) of the Prader-Willi and Angelman syndrome region, extending 3.95 Mb distally to BP5. A smaller 1.5-Mb deletion has a proximal breakpoint within the larger deletion (BP4) and shares the same distal BP5. This recurrent 1.5-Mb deletion contains six genes, including a candidate gene for epilepsy (CHRNA7) that is probably responsible for the observed seizure phenotype. The BP4-BP5 region undergoes frequent inversion, suggesting a possible link between this inversion polymorphism and recurrent deletion. The frequency of these microdeletions in mental retardation cases is approximately 0.3% (6/2,082 tested), a prevalence comparable to that of Williams, Angelman and Prader-Willi syndromes. |
| first_indexed | 2024-03-07T00:35:49Z |
| format | Journal article |
| id | oxford-uuid:815c63d0-ec84-4c01-ad14-c4292dde2e57 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T00:35:49Z |
| publishDate | 2008 |
| record_format | dspace |
| spelling | oxford-uuid:815c63d0-ec84-4c01-ad14-c4292dde2e572022-03-26T21:29:54ZA recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:815c63d0-ec84-4c01-ad14-c4292dde2e57EnglishSymplectic Elements at Oxford2008Sharp, AMefford, HLi, KBaker, CSkinner, CStevenson, RSchroer, RNovara, FDe Gregori, MCiccone, RBroomer, ACasuga, IWang, YXiao, CBarbacioru, CGimelli, GBernardina, BTorniero, CGiorda, RRegan, RMurday, VMansour, SFichera, MCastiglia, LFailla, PWe report a recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms. We describe nine affected individuals, including six probands: two with de novo deletions, two who inherited the deletion from an affected parent and two with unknown inheritance. The proximal breakpoint of the largest deletion is contiguous with breakpoint 3 (BP3) of the Prader-Willi and Angelman syndrome region, extending 3.95 Mb distally to BP5. A smaller 1.5-Mb deletion has a proximal breakpoint within the larger deletion (BP4) and shares the same distal BP5. This recurrent 1.5-Mb deletion contains six genes, including a candidate gene for epilepsy (CHRNA7) that is probably responsible for the observed seizure phenotype. The BP4-BP5 region undergoes frequent inversion, suggesting a possible link between this inversion polymorphism and recurrent deletion. The frequency of these microdeletions in mental retardation cases is approximately 0.3% (6/2,082 tested), a prevalence comparable to that of Williams, Angelman and Prader-Willi syndromes. |
| spellingShingle | Sharp, A Mefford, H Li, K Baker, C Skinner, C Stevenson, R Schroer, R Novara, F De Gregori, M Ciccone, R Broomer, A Casuga, I Wang, Y Xiao, C Barbacioru, C Gimelli, G Bernardina, B Torniero, C Giorda, R Regan, R Murday, V Mansour, S Fichera, M Castiglia, L Failla, P A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. |
| title | A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. |
| title_full | A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. |
| title_fullStr | A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. |
| title_full_unstemmed | A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. |
| title_short | A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. |
| title_sort | recurrent 15q13 3 microdeletion syndrome associated with mental retardation and seizures |
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