Three families with confirmed and one family with suspected male transmission of the fragile X are presented, with psychological and physical assessment of all available members. The psychological tests used were the Peabody Picture Vocabulary test and Block Design which measured verbal and non-verbal abilities, respectively. Physical status was assessed by recording dysmorphic features and by anthropometric measurements. This study demonstrated that there are appreciable differences in mental and physical status within sibships of daughters of male carriers, as well as recognizable physical alterations and intellectual impairment in the transmitting males. These findings contradict the concept that there are two distinct categories of fragile X carriers: phenotypically normal as opposed to affected. They suggest instead that the defect may be graded and emphasize the importance of intellectual deficits and physical alterations in defining the fragile X phenotype, both in low-penetrant males and female heterozygotes.
Systematic and in particular cytogenetic criteria show that the species Labidura truncata Kirby, 1903 should be re-erected. The karyotype was found to be 2nd = I0 (4AA + XY),The systematic history of the members of the genus Labidura Leach, 1815 is reviewed by Brindle (1966), with particular attention to the confused situation concerning Labidura riparia (Pallas 1773). Much of this confusion has undoubtedly resulted from the conviction of increasing numbers of authors that L. riparia (originally described from W. Siberia) is a very variable cosmopolitan species. Synonymic lists, discussions of the validity of systematically significant characters and of the relationships of members of the L. riparia complex are given by Kirby (1903: 63; 1904: 9), Burr (191 1: 36), Bey-Bienko (1936: 101) and Brindle (1966: 243, 257, 259). The last author points out that the male genitalia of specimens from different parts of the world are remarkably similar. His figures show that there are only very slight differences in the apices of the lateral lobes.On the basis of external characters there seems no doubt that Labidura truncata is a distinct form. Kirby (1903) gives as diagnostic characters (other than colouration): the absence of paired teeth on the caudal margin of the posterior tergite between the bases of the forceps and the presence of a preapical tooth (of variable size) on the inner margin of each 'blade of the forceps of the male, the constancy of which is pointed out by Hincks (1954). A study by one of us (E.T.G.) of several large collections from all over Australia has shown both of these to be particularly constant characters. Colouration and the degree of development of the tegmina and wings are variable. Although the female genitalia are not used for diagnostic purposes in the Labiduridae, differences between these organs in specimens in European collections labelled L. riparia and in L. truncata have been observed (E.T.G.). This also points to a separation between the two forms.Below are set out the more important elements of the synonymy. Labidura truncata Kirby, 1903Lahiduru rruncata Kirby, 1903: 67. Kirby, 1904: 11. Burr, 1908 fig. 7. Burr, 1911: 37. Brindle.Ld>iditrcr ripariu geogr. race rruncu/u Kirby, 1903. Burr. 1910. Ld)idirra ripwio /ritncara Kirby, 1903. Hebard, 1933: 147. Hincks. 1954: 8. Giles. 1964: 1109 A relatively uniform karyotype was found in material of both sexes of Labidura truncatu from near Perth and Eucla, W.A.; Wyreema, near Toowoomba, Qld and from Lake Boga, Yarrawonga and many localities near Melbourne, Vic. It can therefore be assumed that the description which follows would apply generally to the cytology of the species throughout Australia.
SUMMARY A pedigree showing the fragile site at Xq27 in a severely retarded female and in other less retarded carriers is described. Two of the four moderately retarded males with the fra(X)(q27) show macro-orchidism, and a variety of other features usually used to support the effects of the fra(X)(q27) are also inconsistent. A second fragile site at (l0)(q23) is also present and in the two oldest females its frequency is not decreased, whereas the fra(X)(q27) is not detectable in these females although probably present. It is concluded that pedigrees showing mentally retarded females and probable X linkage should be included in studies of the fra(X)(q27).
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