When to tell and test for genetic carrier status: perspectives of adolescents and young adults from fragile X families.
When to tell and test for genetic carrier status: perspectives of adolescents and young adults from fragile X families.
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DOI：
10.1002/ajmg.a.32840
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发表时间：
2009-06
影响因子：
2
通讯作者：
McConkie-Rosell, Allyn
中科院分区：
文献类型：
--
作者：
Wehbe, Ramsey M.;Spiridigliozzi, Gail A.;Heise, Elizabeth M.;Dawson, Deborah V.;McConkie-Rosell, Allyn
我们在这里报告了我们对有脆性X综合征家族史的青少年和年轻成年女性（14-25岁）的研究结果，这些女性对1）学习脆性X是遗传的，2）学习脆性X可能是脆性X的携带者，3）提供脆性X的携带者检测的最佳年龄的看法。三组被招募：那些知道他们是携带者或非携带者的人和那些只知道他们有成为携带者的风险的人。在53名参与者中，只有两人认为提供携带者检测应该推迟到18岁。那些只知道自己有成为携带者风险的参与者提供的最佳年龄比那些知道自己实际携带者状态的参与者提供的最佳年龄要大。参与者没有对关于他们自己经历的遗传风险信息的披露时间表示遗憾或负面情绪。参与者在报告遗传风险和提供携带者检测的年龄背后的推理取决于披露的信息类型，参与者属于哪个携带者状态组以及学习信息的首选年龄。研究结果表明，关于告知遗传风险和提供检测的时机的决定应根据儿童及其家庭的个人需要进行调整。
We report here our findings from adolescent and young adult females (ages 14–25) with a family history of fragile X syndrome regarding their perceptions of the optimal ages for 1) learning fragile X is inherited, 2) learning one could be a carrier for fragile X, and 3) offering carrier testing for fragile X. Three groups were enrolled: those who knew they were carriers or noncarriers and those who knew only they were at-risk to be a carrier. Only two of the 53 participants felt that offering carrier testing should be delayed until the age of 18 years. Participants who knew only that they were at-risk to be a carrier provided older optimal ages for offering carrier testing than those who knew their actual carrier status. Participants did not express regret or negative emotions about the timing of the disclosure of genetic risk information regarding their own experiences. Participants’ reasoning behind reported ages for informing about genetic risk and offering carrier testing varied depending on what type of information was being disclosed, which carrier status group the participant belonged to, and the preferred age for learning the information. Study findings suggest that decisions regarding the timing to inform about genetic risk and offer testing should be tailored to the individual needs of the child and his/her family.
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DOI：
10.1002/ajmg.10396
发表时间：
2002-06-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
McConkie-Rosell, A;Spiridigliozzi, GA;Lachiewicz, AM
通讯作者：
Lachiewicz, AM
DOI：
10.1089/gte.1999.3.347
发表时间：
1999-01-01
期刊：
GENETIC TESTING
影响因子：
--
作者：
Järvinen, O;Lehesjoki, AE;Kääriäinen, H
通讯作者：
Kääriäinen, H
影响因子：
8
作者：
Rosen, A;Wallenstein, S;McGovern, MM
通讯作者：
McGovern, MM
DOI：
10.1002/ajmg.c.10007
发表时间：
2003-05-15
影响因子：
3.1
作者：
James, CA;Holtzman, NA;Hadley, DW
通讯作者：
Hadley, DW
影响因子：
4
作者：
CLARKE, A
通讯作者：
CLARKE, A