Pure de novo partial trisomy 6p in a girl with craniosynostosis
Duplications of chromosome 6p are rarely reported. We present the case of a girl with a de novo trisomy 6p12.3-p21.1 who showed clinical features characteristic of this syndrome, notably facial anomalies, psychomotor delay, and recurrent respiratory tract infections. The most striking feature, howev...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2013
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| _version_ | 1826277362903285760 |
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| author | Varvagiannis, K Stefanidou, A Gyftodimou, Y Lord, H Williams, L Sarri, C Pandelia, E Bazopoulou-Kyrkanidou, E Noakes, C Lester, T Wilkie, A Petersen, M |
| author_facet | Varvagiannis, K Stefanidou, A Gyftodimou, Y Lord, H Williams, L Sarri, C Pandelia, E Bazopoulou-Kyrkanidou, E Noakes, C Lester, T Wilkie, A Petersen, M |
| author_sort | Varvagiannis, K |
| collection | OXFORD |
| description | Duplications of chromosome 6p are rarely reported. We present the case of a girl with a de novo trisomy 6p12.3-p21.1 who showed clinical features characteristic of this syndrome, notably facial anomalies, psychomotor delay, and recurrent respiratory tract infections. The most striking feature, however, was craniosynostosis, manifested by the premature fusion of the right coronal and sagittal sutures. A review of the literature revealed that the presence of abnormal fontanelles and sutures is relatively common among patients with proximal trisomy 6p. Exclusion of the most frequently occurring craniosynostosis mutations, as well as of further chromosomal anomalies in our case, suggest the presence of a gene regulating suture formation within this region. Based on recent findings, we hypothesize that the runt-related transcription factor 2 (RUNX2) may be a reasonable candidate gene for craniosynostosis in such patients. © 2013 Wiley Periodicals, Inc.. |
| first_indexed | 2024-03-06T23:27:46Z |
| format | Journal article |
| id | oxford-uuid:6afcfece-7d0b-4e07-afcc-dc99994f01eb |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T23:27:46Z |
| publishDate | 2013 |
| record_format | dspace |
| spelling | oxford-uuid:6afcfece-7d0b-4e07-afcc-dc99994f01eb2022-03-26T19:00:53ZPure de novo partial trisomy 6p in a girl with craniosynostosisJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:6afcfece-7d0b-4e07-afcc-dc99994f01ebEnglishSymplectic Elements at Oxford2013Varvagiannis, KStefanidou, AGyftodimou, YLord, HWilliams, LSarri, CPandelia, EBazopoulou-Kyrkanidou, ENoakes, CLester, TWilkie, APetersen, MDuplications of chromosome 6p are rarely reported. We present the case of a girl with a de novo trisomy 6p12.3-p21.1 who showed clinical features characteristic of this syndrome, notably facial anomalies, psychomotor delay, and recurrent respiratory tract infections. The most striking feature, however, was craniosynostosis, manifested by the premature fusion of the right coronal and sagittal sutures. A review of the literature revealed that the presence of abnormal fontanelles and sutures is relatively common among patients with proximal trisomy 6p. Exclusion of the most frequently occurring craniosynostosis mutations, as well as of further chromosomal anomalies in our case, suggest the presence of a gene regulating suture formation within this region. Based on recent findings, we hypothesize that the runt-related transcription factor 2 (RUNX2) may be a reasonable candidate gene for craniosynostosis in such patients. © 2013 Wiley Periodicals, Inc.. |
| spellingShingle | Varvagiannis, K Stefanidou, A Gyftodimou, Y Lord, H Williams, L Sarri, C Pandelia, E Bazopoulou-Kyrkanidou, E Noakes, C Lester, T Wilkie, A Petersen, M Pure de novo partial trisomy 6p in a girl with craniosynostosis |
| title | Pure de novo partial trisomy 6p in a girl with craniosynostosis |
| title_full | Pure de novo partial trisomy 6p in a girl with craniosynostosis |
| title_fullStr | Pure de novo partial trisomy 6p in a girl with craniosynostosis |
| title_full_unstemmed | Pure de novo partial trisomy 6p in a girl with craniosynostosis |
| title_short | Pure de novo partial trisomy 6p in a girl with craniosynostosis |
| title_sort | pure de novo partial trisomy 6p in a girl with craniosynostosis |
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