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

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.

Grantor dc:publisher.institution

Department of Medicine

Year dc:date.issued

2011

Author dc:creator

• Verkijk, Nakita

Advisor dc:contributor.advisor

• Futter, Merle

Language dc:language.iso

eng

Handle dc:identifier.uri

http://hdl.handle.net/11427/11481

OAI identifier oai:identifier

oai:open.uct.ac.za:11427/11481