Article
[Familial fragile X syndrome: A pedigree analysis].
Zhonghua nan ke xue = National journal of andrology - 1 Sept 2016
Sha Yan-Wei, Ding Lu, Ji Zhi-Yong, Mei Li-Bin, Li Ping, Li Zheng
Abstract excerpt
OBJECTIVE: To investigate the clinical (including reproductive) manifestations and genetic characteristics of familial fragile X syndrome (FXS). METHODS: We collected the clinical data about a case of familial FXS by inquiry, testicular ultrasonography, semen analysis, determination of sex hormone levels, and examinations of the peripheral blood karyotype and Y chromosome microdeletions. Using Southern blot...
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