{"id":{"repo_id":"cape-town","oai_identifier":"oai:open.uct.ac.za:11427/11481"},"canonical_url":"https://search.dev.ndltd.org/etd/cape-town/oai:open.uct.ac.za:11427/11481","repository":{"repo_id":"cape-town","name":"University of Cape Town","base_url":"https://open.uct.ac.za/oai/request"},"display":{"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","abstract":"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.","abstract_html":"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.","abstract_has_math":false,"creators":["Verkijk, Nakita"],"institution":"Department of Medicine","degree_name":null,"degree_level":null,"degree_discipline":null,"degree_department":null,"school":null,"contributors":[],"advisors":["Futter, Merle"],"committee_chairs":[],"committee_members":[],"year":2011,"date_issued":"2011","date_published":"2011","updated_at":"2026-07-22T22:23:26Z","subjects":[],"languages":["eng"],"rights":[],"rights_urls":[],"identifier_entries":[]},"links":{"outbound_url":"http://hdl.handle.net/11427/11481","outbound_label":"Handle","outbound_source":"dc:identifier.uri"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:contributor.advisor","label":"Advisor","values":["Futter, Merle"]},{"key":"dc:creator","label":"Author","values":["Verkijk, Nakita"]}]},{"id":"academic_context","label":"Academic Context","entries":[{"key":"dc:date.accessioned","label":"Dc Date Accessioned","values":["2015-01-05T18:50:37Z"]},{"key":"dc:date.available","label":"Dc Date Available","values":["2015-01-05T18:50:37Z"]},{"key":"dc:date.issued","label":"Date","values":["2011"]},{"key":"dc:publisher.department","label":"Dc Publisher Department","values":["Department of Medicine"]},{"key":"dc:publisher.institution","label":"Dc Publisher Institution","values":["University of Cape Town"]},{"key":"dc:type","label":"Dc Type","values":["Master Thesis"]},{"key":"dc:type.qualificationlevel","label":"Dc Type Qualificationlevel","values":["Masters"]},{"key":"dc:type.qualificationname","label":"Dc Type Qualificationname","values":["MSc"]}]},{"id":"language_rights","label":"Language and Rights","entries":[{"key":"dc:language.iso","label":"Language (ISO)","values":["eng"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier.uri","label":"Identifier URI","values":["http://hdl.handle.net/11427/11481"]}]},{"id":"additional","label":"Additional Metadata","entries":[{"key":"dc:description","label":"Description","values":["Includes abstract.","Includes bibliographical references (leaves 127-134)."]},{"key":"dc:description.abstract","label":"Abstract","values":["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."]},{"key":"dc:title","label":"Title","values":["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"]}]}],"canonical_facts":{"dc:contributor.advisor":["Futter, Merle"],"dc:creator":["Verkijk, Nakita"],"dc:date.accessioned":["2015-01-05T18:50:37Z"],"dc:date.available":["2015-01-05T18:50:37Z"],"dc:date.issued":["2011"],"dc:description":["Includes abstract.","Includes bibliographical references (leaves 127-134)."],"dc:description.abstract":["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."],"dc:identifier.uri":["http://hdl.handle.net/11427/11481"],"dc:language.iso":["eng"],"dc:publisher.department":["Department of Medicine"],"dc:publisher.institution":["University of Cape Town"],"dc: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"],"dc:type":["Master Thesis"],"dc:type.qualificationlevel":["Masters"],"dc:type.qualificationname":["MSc"]},"updated_at":"2026-07-22T22:23:26Z"}