The 6p deletion syndrome: a new orofacial clefting syndrome and its implications for antenatal screening

Foetal genetic screening has become the centre of the ethical debate surrounding the screening of foetuses for chromosomal defects to help create ‘eugenic’ children with either perceived advantageous characteristics or traits that could be used to medically aid unhealthy siblings. This report highli...

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Veröffentlicht in:British journal of plastic surgery 2002, Vol.55 (1), p.68-72
Hauptverfasser: Topping, Adam, Harris, Paul, Moss, Tony
Format: Artikel
Sprache:eng
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Zusammenfassung:Foetal genetic screening has become the centre of the ethical debate surrounding the screening of foetuses for chromosomal defects to help create ‘eugenic’ children with either perceived advantageous characteristics or traits that could be used to medically aid unhealthy siblings. This report highlights the problems facing the medical establishment by citing, by way of example, a case of a genetic abnormality producing a clefting syndrome. The 6p deletion syndrome was first described almost 20 years ago, and the evidence is mounting for its inclusion as an orofacial clefting syndrome. This case report includes a description of the syndrome, the method used for detecting chromosomal aberrations and a comparison with other reports of the syndrome published to date. However, by pursuing a genetic-testing policy at our unit to detect new abnormalities or to help substantiate previously reported abnormalities, the way could be left open for its subsequent abuse by parents and corporations alike, so having implications not only for the individual but also for the unit performing the test. A brief synopsis is therefore also provided regarding the current circumstances of foetal screening in the UK.
ISSN:0007-1226
1465-3087
DOI:10.1054/bjps.2001.3729