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Since macro\u2010orchidism was a variable feature among the otherwise identically affected males in one family, we question the existence of a separate entity of X\u2010linked mental retardation characterized only by testicular enlargement. The X chromosome marker of Lubs was expressed, under the culture conditions of Sutherland, in lymphocytes of the affected males of two families, one with and the other without megalotestes. Two affected members of the third family, with megalotestes, did not show the marker. Telomeric structural changes similar to the mar(X) (qter) formation were found on certain autosomes, notably, chromosome 6 in some of the affected males, potential and obligate carrier females, and in both related and unrelated normal males. These autosomal markers appear to represent a nonspecific response to either in vivo or in vitro folate deficiency. Caution against premature introduction of this test for prenatal diagnosis, in the face of current ignorance regarding diagnostic specificity, is urged.<\/jats:p>","DOI":"10.1002\/ajmg.1320070404","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T13:21:17Z","timestamp":1118496077000},"page":"417-432","source":"Crossref","is-referenced-by-count":60,"title":["Significance of phenotypic and chromosomal abnormalities in X\u2010linked mental retardation (Martin\u2010Bell or Renpenning syndrome)"],"prefix":"10.1002","volume":"7","author":[{"given":"M.","family":"Jennings","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. 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