PMID: 8986278Jan 10, 1997Paper

Carrier testing in the fragile X syndrome: attitudes and opinions of obligate carriers

American Journal of Medical Genetics
Allyn McConkie-RosellA M Lachiewicz

Abstract

This study surveyed obligate carriers of the fragile X syndrome fra(X) to ascertain opinions and attitudes regarding carrier testing. Female carriers of fra(X) syndrome were recruited during their visits to the Fragile X Clinic at Duke University Medical Center. Twenty-eight obligate carriers completed a 48 question structured interview and a visual analog scale (VAS). Strong trends in the responses were identified. Fra(X) syndrome was viewed as a very serious problem and the risk to offspring high. Subjects reported that prior knowledge of carrier status would have changed their reproductive plans. All felt that relatives should be informed about the inheritance of fra(X) syndrome; the mean age given for preferred age to inform their children of the inheritance of fra(X) syndrome was 12 years, and mean age given for optimal timing of carrier testing was 10 years. The women interviewed indicated that growing up with knowledge of their carrier status would have been preferable to learning this information as adults and they endorsed an aggressive approach to informing and testing their children. Further investigation is warranted to determine the psychological consequences of carrier testing for fra(X) syndrome in order to devel...Continue Reading

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Citations

Mar 12, 2009·Journal of Genetic Counseling·Allyn McConkie-RosellGail A Spiridigliozzi
Jan 4, 2001·The American Journal of Medicine·L S LehmannJ E Garber
Nov 14, 2015·European Journal of Medical Genetics·D F Vears, S A Metcalfe
Feb 20, 2008·Haemophilia : the Official Journal of the World Federation of Hemophilia·N F DunnC A Lee
Dec 15, 2012·American Journal of Medical Genetics. Part a·Alison D ArchibaldSylvia A Metcalfe
Nov 26, 2009·American Journal of Medical Genetics. Part a·Alison D ArchibaldSylvia A Metcalfe
Jul 11, 2002·Obstetrics and Gynecology Clinics of North America·Katharine D Wenstrom
Feb 26, 2000·Neonatal Network : NN·J L Welch, J K Williams
May 20, 2016·Journal of Genetic Counseling·Danya F VearsLynn Gillam
Jan 13, 1999·Journal of the Society of Pediatric Nurses : JSPN·C A Prows, A M Lovell
Sep 16, 2011·Journal of Health Psychology·Celine LewisRay Jones
Jul 28, 2005·Journal of Genetic Counseling·Allyn McConkie-RosellBarbara J Pettersen
Jul 28, 2005·Journal of Genetic Counseling·Aimee AnidoStephanie L Sherman
Oct 31, 2007·Journal of Genetic Counseling·Lisa M PastoreLogan B Karns
Dec 14, 1999·American Journal of Medical Genetics·J H Fanos, M A Mackintosh
Jun 22, 2000·American Journal of Medical Genetics·A McConkie-RosellA M Lachiewicz
Mar 3, 2004·Mental Retardation and Developmental Disabilities Research Reviews·Donald B Bailey
Feb 17, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Joanna H FanosThomas J Musci
Jul 13, 2002·American Journal of Medical Genetics·Allyn McConkie-RosellAve M Lachiewicz
Apr 22, 2003·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Cynthia A JamesDonald W Hadley
Feb 14, 2007·Journal of Genetic Counseling·Aimee AnidoStephanie L Sherman
Apr 15, 2011·Journal of Genetic Counseling·Anna LehmannLauren Kerzin-Storrar
Jan 18, 2008·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Allyn McConkie-RosellAve M Lachiewicz
Aug 24, 2016·Menopause : the Journal of the North American Menopause Society·Heather S HippStephanie L Sherman
Sep 23, 2003·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Debra SkinnerDonald B Bailey
Aug 1, 2000·Journal of Genetic Counseling·A McConkie-Rosell, B M DeVellis
Jan 1, 2003·Paediatrics & Child Health
Jun 27, 2008·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sylvia MetcalfeJonathan Cohen
Feb 1, 2004·Journal of Genetic Counseling·Allyn McConkie-Rosell, Gail A Spiridigliozzi

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