A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation
A recently described genetic disorder has been associated with 13q12.3 microdeletion spanning three genes, namely, KATNAL1, LINC00426, and HMGB1. Here, we report a new case with similar clinical features that we have followed from birth to 5 years old. The child carried a complex rearrangement with...
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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2014/470830 |
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| author | Giorgia Mandrile Eleonora Di Gregorio Alessandro Calcia Alessandro Brussino Enrico Grosso Elisa Savin Daniela Francesca Giachino Alfredo Brusco |
| author_facet | Giorgia Mandrile Eleonora Di Gregorio Alessandro Calcia Alessandro Brussino Enrico Grosso Elisa Savin Daniela Francesca Giachino Alfredo Brusco |
| author_sort | Giorgia Mandrile |
| collection | DOAJ |
| description | A recently described genetic disorder has been associated with 13q12.3 microdeletion spanning three genes, namely, KATNAL1, LINC00426, and HMGB1. Here, we report a new case with similar clinical features that we have followed from birth to 5 years old. The child carried a complex rearrangement with a double translocation: 46,XX,t(7;13)(p15;q14),t(11;15)(q23;q22). Array-CGH identified a de novo microdeletion at 13q12.2q13.1 spanning 3–3.4 Mb and overlapping 13q12.3 critical region. Clinical features resembling those reported in the literature confirm the existence of a distinct 13q12.3 microdeletion syndrome and provide further evidence that is useful to characterize its phenotypic expression during the 5 years of development. |
| format | Article |
| id | doaj-art-eaaf2417387b4a28a6975a17b4675cf9 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-eaaf2417387b4a28a6975a17b4675cf92025-02-03T01:30:52ZengWileyCase Reports in Genetics2090-65442090-65522014-01-01201410.1155/2014/470830470830A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype DelineationGiorgia Mandrile0Eleonora Di Gregorio1Alessandro Calcia2Alessandro Brussino3Enrico Grosso4Elisa Savin5Daniela Francesca Giachino6Alfredo Brusco7Medical Genetics Unit, “San Luigi Gonzaga” University Hospital, University of Torino, Regione Gonzole 10, 10143 Orbassano, ItalyDepartment of Medical Sciences, University of Torino, Via Santena 19, 10126 Torino, ItalyDepartment of Medical Sciences, University of Torino, Via Santena 19, 10126 Torino, ItalyDepartment of Medical Sciences, University of Torino, Via Santena 19, 10126 Torino, ItalyMedical Genetics, “Città della Salute e della Scienza” University Hospital, 10126 Torino, ItalyMedical Genetics, “Città della Salute e della Scienza” University Hospital, 10126 Torino, ItalyMedical Genetics Unit, “San Luigi Gonzaga” University Hospital, University of Torino, Regione Gonzole 10, 10143 Orbassano, ItalyDepartment of Medical Sciences, University of Torino, Via Santena 19, 10126 Torino, ItalyA recently described genetic disorder has been associated with 13q12.3 microdeletion spanning three genes, namely, KATNAL1, LINC00426, and HMGB1. Here, we report a new case with similar clinical features that we have followed from birth to 5 years old. The child carried a complex rearrangement with a double translocation: 46,XX,t(7;13)(p15;q14),t(11;15)(q23;q22). Array-CGH identified a de novo microdeletion at 13q12.2q13.1 spanning 3–3.4 Mb and overlapping 13q12.3 critical region. Clinical features resembling those reported in the literature confirm the existence of a distinct 13q12.3 microdeletion syndrome and provide further evidence that is useful to characterize its phenotypic expression during the 5 years of development.http://dx.doi.org/10.1155/2014/470830 |
| spellingShingle | Giorgia Mandrile Eleonora Di Gregorio Alessandro Calcia Alessandro Brussino Enrico Grosso Elisa Savin Daniela Francesca Giachino Alfredo Brusco A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation Case Reports in Genetics |
| title | A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation |
| title_full | A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation |
| title_fullStr | A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation |
| title_full_unstemmed | A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation |
| title_short | A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation |
| title_sort | new case of 13q12 2q13 1 microdeletion syndrome contributes to phenotype delineation |
| url | http://dx.doi.org/10.1155/2014/470830 |
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