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Spermatogenesis in two patients with the fragile X syndrome

โœ Scribed by R. Johannisson; U. Froster-Iskenius; N. Saadallah; M. A. Hulten


Book ID
104742287
Publisher
Springer
Year
1988
Tongue
English
Weight
447 KB
Volume
79
Category
Article
ISSN
0340-6717

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โœฆ Synopsis


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.


๐Ÿ“œ SIMILAR VOLUMES


Fragile X syndrome in two siblings with
โœ Giampietro, Philip F.; Haas, Bruce R.; Lipper, Evelyn; Gutman, Alyson; Zellers, ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 17 KB

We report on 2 brothers with both fragile X and VACTERL-H syndrome. The first sibling, age 5, had bilateral cleft lip and palate, ventricular septal defect, and a hypoplastic thumb. The second sibling, age 2%, had a trachesophageal fistula, esophageal atresia, and vertebral abnormality. High-resolut