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
Master Thesis
2011
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University of Cape Town
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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.
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Includes bibliographical references (leaves 127-134).
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Verkijk, N. 2011. 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. University of Cape Town.