期刊
ANNALES D ENDOCRINOLOGIE
卷 71, 期 3, 页码 215-217出版社
MASSON EDITEUR
DOI: 10.1016/j.ando.2010.02.009
关键词
Fragile X premutations; Premature ovarian failure; FRAXA premutation
Screening for fragile X premutations is recommended for the routine work-up for any woman presenting with premature ovarian failure (POF). The reason for this is that women with POF have an approximate 5% chance of conceiving and this possibility may be increased further in the FRAXA premutation subgroup. Women need to be informed if they are at risk of having a child with fragile X syndrome. In addition, the identification of a family in which the fragile X repeat site is expanded can lead to the identification of other female family members at risk of transmitting fragile X syndrome. The identification of an index case should therefore trigger genetic counseling throughout the pedigree according to the wishes of the family. (C) 2010 Published by Elsevier Masson SAS.
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