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An investigation into the reasons for non-uptake of carrier testing in a family affected by alpha thalassaemia X-linked mental retardation (ATR-X) syndrome
Includes abstract.
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| Other Authors: | |
| Format: | Thesis |
| Language: | English |
| Published: |
Department of Medicine
2015
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| _version_ | 1867613332033241088 |
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| access_status_str | Open Access |
| author | Verkijk, Nakita |
| author2 | Futter, Merle |
| author_browse | Futter, Merle Verkijk, Nakita |
| author_facet | Futter, Merle Verkijk, Nakita |
| author_sort | Verkijk, Nakita |
| collection | Thesis |
| description | Includes abstract. |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/11481 |
| institution | University of Cape Town (South Africa) |
| language | eng |
| last_indexed | 2026-06-10T12:34:27.383Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2015 |
| publishDateRange | 2015 |
| publishDateSort | 2015 |
| publisher | Department of Medicine |
| publisherStr | Department of Medicine |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/11481 An investigation into the reasons for non-uptake of carrier testing in a family affected by alpha thalassaemia X-linked mental retardation (ATR-X) syndrome Verkijk, Nakita Futter, Merle Genetic Counselling Includes abstract. Includes bibliographical references (leaves 127-134). Alpha thalassaemia X-linked mental retardation (ATR-X) syndrome is a rare, X-linked intellectual disability syndrome with an estimated prevalence in the range of 1-9/1 000 000. The prevalence in South Africa (SA) is unknown; however in Cape Town there is one extended family with seven males who were clinically, and later molecularly, diagnosed with this condition. Due to the identification of the mutation in this family, carrier and prenatal testing is available. However, since the announcement in 2007 that testing is available, no individuals have presented themselves for their carrier status to be determined. The aim of this study was to investigate the reasons why females in this family have not presented for carrier testing. 2015-01-05T18:50:37Z 2015-01-05T18:50:37Z 2011 Master Thesis Masters MSc http://hdl.handle.net/11427/11481 eng application/pdf Department of Medicine Faculty of Health Sciences University of Cape Town |
| spellingShingle | Genetic Counselling Verkijk, Nakita An investigation into the reasons for non-uptake of carrier testing in a family affected by alpha thalassaemia X-linked mental retardation (ATR-X) syndrome |
| thesis_degree_str | Master's |
| title | An investigation into the reasons for non-uptake of carrier testing in a family affected by alpha thalassaemia X-linked mental retardation (ATR-X) syndrome |
| title_full | An investigation into the reasons for non-uptake of carrier testing in a family affected by alpha thalassaemia X-linked mental retardation (ATR-X) syndrome |
| title_fullStr | An investigation into the reasons for non-uptake of carrier testing in a family affected by alpha thalassaemia X-linked mental retardation (ATR-X) syndrome |
| title_full_unstemmed | An investigation into the reasons for non-uptake of carrier testing in a family affected by alpha thalassaemia X-linked mental retardation (ATR-X) syndrome |
| title_short | An investigation into the reasons for non-uptake of carrier testing in a family affected by alpha thalassaemia X-linked mental retardation (ATR-X) syndrome |
| title_sort | investigation into the reasons for non uptake of carrier testing in a family affected by alpha thalassaemia x linked mental retardation atr x syndrome |
| topic | Genetic Counselling |
| url | http://hdl.handle.net/11427/11481 |
| work_keys_str_mv | AT verkijknakita aninvestigationintothereasonsfornonuptakeofcarriertestinginafamilyaffectedbyalphathalassaemiaxlinkedmentalretardationatrxsyndrome AT verkijknakita investigationintothereasonsfornonuptakeofcarriertestinginafamilyaffectedbyalphathalassaemiaxlinkedmentalretardationatrxsyndrome |