Dissemination of genetic risk information to relatives in the fragile X syndrome: guidelines for genetic counselors

American Journal of Medical Genetics
A McConkie-RosellAmy Cronister

Abstract

Fragile X Syndrome, which affects 1 in 1,250 males, is the most common inherited condition causing mental retardation. Although carrier detection for the fragile X syndrome utilizing DNA has now been simplified, genetic counseling and the process of informing at-risk family members remains complex. The purpose of this paper is to offer practical guidelines to health professionals providing genetic counseling to fragile X families in order to facilitate the dissemination of genetic risk information to relatives. This paper was developed from a workshop held at the 4th International Fragile X Conference. The guidelines presented here represent a beginning in the development of an approach to informing relatives in fragile X families about genetic risk, and the identification of mechanisms to reduce the burden to families.

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Citations

Jun 22, 2000·American Journal of Medical Genetics·A McConkie-RosellA M Lachiewicz
Jun 17, 2005·Journal of Genetic Counseling·Clara L GaffJane Halliday
Jul 28, 2005·Journal of Genetic Counseling·Allyn McConkie-RosellBarbara J Pettersen
Mar 12, 2009·Journal of Genetic Counseling·Allyn McConkie-RosellGail A Spiridigliozzi
Jan 13, 1999·Journal of the Society of Pediatric Nurses : JSPN·C A Prows, A M Lovell
Dec 10, 1997·Journal of Medical Genetics·M A van RijnM F Niermeijer
Jan 2, 2009·Pediatrics·Randi J HagermanMichael Tranfaglia
Feb 13, 2016·Journal of Genetic Counseling·Allyn McConkie RosellVandana Shashi
Nov 1, 2006·Fertility and Sterility·Michael D WittenbergerLawrence M Nelson
Oct 21, 2016·Journal of Genetic Counseling·Rowan Forbes ShepherdLinda Warwick
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·Josephine Wagner CostalasMary B Daly
Dec 1, 1996·European Journal of Population = Revue Européenne De Démographie·M Murphy
Dec 8, 1998·Nature Genetics·N E Morton
Apr 21, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Kirsty McWalterJane Juusola
Jun 20, 2012·Journal of Community Genetics·Jennifer G R KrombergArnold L Christianson
Jan 1, 1997·Journal of Medical Screening·J MurrayJ Hewison

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