Spermatogenesis in two patients with the fragile X syndrome |
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| Authors: | R Johannisson U Froster-Iskenius N Saadallah M A Hulten |
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| Institution: | (1) Institut für Pathologie der Medizinischen Universität zu Lübeck, Ratzeburger Allee 160, D-2400 Lübeck 1, Germany;(2) Institut für Humangenetik der Medizinischen Universität zu Lübeck, Ratzeburger Allee 160, D-2400 Lübeck 1, Germany;(3) Department of Genetics, University of Birmingham, B9 5ST Birmingham, UK;(4) Regional Cytogenetics Laboratory, East Birmingham Hospital, B9 5ST Birmingham, UK |
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| Abstract: | Summary Chromosomes at first meiosis from two males with the fra(X) form of mental retardation were studied using pachytene surface spreads and air-dried preparations. The pachytene sex bivalents showed no discontinuation of the synaptonemal complex in the terminal part of Xq corresponding to band Xq27–28 of the mitotic chromosomes. In both cases the frequency of a secondary association of Xq and Yq appeared to be increased compared with controls. The pairing behavior of autosomal bivalents in pachytene and the frequency and distribution of chiasmata in diakinesis were normal. The impairment of spermatogenesis found in these males may not be caused by a meiotic disorder, but could be related to peritubular or intratubular pressure effects on germ cells. |
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