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The analysis of 6 flanking polymorphic DNA markers showed that the affection is transmitted, through the carrier daughters to the grandsons and the greatgrandsons and that the greatgrandfather is a transmitting male. This observation led us to question the importance of these clinically normal males, who are nonexpressing carriers and termed transmitting males. One propositus, described as a mentally retarded young man, had inherited identical restriction polymorphisms from his mother. Chromosome analysis showed a Klinefelter syndrome, with a fragile site in 18% of the cells leading to the conclusion that the nondisjunction occurred at the first stage of the maternal meiosis.<\/jats:p>","DOI":"10.1002\/ajmg.1320380243","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:09:12Z","timestamp":1118549352000},"page":"374-377","source":"Crossref","is-referenced-by-count":3,"title":["Fragile X syndrome in an extended family with special reference to an affected male with Klinefelter 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