Molecular and clinical characterization of new patient with 1,08 Mb deletion in 10p15.3 region
Abstract Background Three distinct contiguous gene deletion syndromes are located at 10p chromosomal region. The deletion, involving 10p15.3 region, has been characterized by (DeScipio et al., Am J Med Genet A 158A:2152-61, 2012). However, because of the variation in size of the described deletions...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2017-09-01
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| Series: | Molecular Cytogenetics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13039-017-0336-2 |
| _version_ | 1811225568412172288 |
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| author | Anna Poluha Joanna Bernaciak Ilona Jaszczuk Marta Kędzior Beata Anna Nowakowska |
| author_facet | Anna Poluha Joanna Bernaciak Ilona Jaszczuk Marta Kędzior Beata Anna Nowakowska |
| author_sort | Anna Poluha |
| collection | DOAJ |
| description | Abstract Background Three distinct contiguous gene deletion syndromes are located at 10p chromosomal region. The deletion, involving 10p15.3 region, has been characterized by (DeScipio et al., Am J Med Genet A 158A:2152-61, 2012). However, because of the variation in size of the described deletions and lack of knowledge about the involved genes, the correlation between genotypes and patients’ phenotypes remains unknown. Case presentation We describe female patient with de novo 1,08 Mb deletion in 10p15.3 region, similar to the patient nr seven reported by (DeScipio et al., Am J Med Genet A 158A:2152-61, 2012) but with more severe clinical features. Our patient demonstrated speech and motor delay, dysmorphic features, brain abnormalities and Tetralogy of Fallot with pulmonary atresia. Conclusions This case shows the importance of collection of more patients with deletion in order to obtain a more precise physical map of 10p region. |
| first_indexed | 2024-04-12T09:09:30Z |
| format | Article |
| id | doaj.art-a1dd49b038334268a601b537fef8b531 |
| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-04-12T09:09:30Z |
| publishDate | 2017-09-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj.art-a1dd49b038334268a601b537fef8b5312022-12-22T03:39:01ZengBMCMolecular Cytogenetics1755-81662017-09-011011610.1186/s13039-017-0336-2Molecular and clinical characterization of new patient with 1,08 Mb deletion in 10p15.3 regionAnna Poluha0Joanna Bernaciak1Ilona Jaszczuk2Marta Kędzior3Beata Anna Nowakowska4Department of Pediatric Hematology, Oncology and Transplantation Children’s University HospitalDepartment of Medical Genetics, Cytogenetics, Institute of Mother and ChildDepartment of Pediatric Hematology, Oncology and Transplantation Children’s University HospitalDepartment of Medical Genetics, Cytogenetics, Institute of Mother and ChildDepartment of Medical Genetics, Cytogenetics, Institute of Mother and ChildAbstract Background Three distinct contiguous gene deletion syndromes are located at 10p chromosomal region. The deletion, involving 10p15.3 region, has been characterized by (DeScipio et al., Am J Med Genet A 158A:2152-61, 2012). However, because of the variation in size of the described deletions and lack of knowledge about the involved genes, the correlation between genotypes and patients’ phenotypes remains unknown. Case presentation We describe female patient with de novo 1,08 Mb deletion in 10p15.3 region, similar to the patient nr seven reported by (DeScipio et al., Am J Med Genet A 158A:2152-61, 2012) but with more severe clinical features. Our patient demonstrated speech and motor delay, dysmorphic features, brain abnormalities and Tetralogy of Fallot with pulmonary atresia. Conclusions This case shows the importance of collection of more patients with deletion in order to obtain a more precise physical map of 10p region.http://link.springer.com/article/10.1186/s13039-017-0336-210p15.3 deletionIntellectual disabilityLanguage impairment |
| spellingShingle | Anna Poluha Joanna Bernaciak Ilona Jaszczuk Marta Kędzior Beata Anna Nowakowska Molecular and clinical characterization of new patient with 1,08 Mb deletion in 10p15.3 region Molecular Cytogenetics 10p15.3 deletion Intellectual disability Language impairment |
| title | Molecular and clinical characterization of new patient with 1,08 Mb deletion in 10p15.3 region |
| title_full | Molecular and clinical characterization of new patient with 1,08 Mb deletion in 10p15.3 region |
| title_fullStr | Molecular and clinical characterization of new patient with 1,08 Mb deletion in 10p15.3 region |
| title_full_unstemmed | Molecular and clinical characterization of new patient with 1,08 Mb deletion in 10p15.3 region |
| title_short | Molecular and clinical characterization of new patient with 1,08 Mb deletion in 10p15.3 region |
| title_sort | molecular and clinical characterization of new patient with 1 08 mb deletion in 10p15 3 region |
| topic | 10p15.3 deletion Intellectual disability Language impairment |
| url | http://link.springer.com/article/10.1186/s13039-017-0336-2 |
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