46,Xinv(Yp+q-) in four generations of an Indian family.

Abstract

Pericentric inversion of the human Y chromosome has been reported infrequently but it is known to be an inherited anomaly. Several Harris, 1970) that both sexes were affected; the parents were first cousins, and the affected boys and their normal father had a pericentric inversion of the Y chromosome. The present study was done in an attempt to find the origin of the unusual Y chromosome. Family StudyThe family, whose pedigree is shown in Fig. 1 (Fig. 4). There was little difference in the number of interphase nuclei showing a Y-spot; the highest score was 22% positive and the mean score of all buccal and lymphocyte preparations was 7%.

Cytological assessment of meiotic exchange in a human male with a pericentric inversion of chromosome No. 4

“…Among verified pericentric inversions have been those reported for the Y chromosome, which have an estimated frequency of 1.1 in 1000 in the general population (Jacoils et al, 1964;Solomon et al, 1964;Jacobs and Ross, 1966;Sparkes et al, 1970;G race et al, 1972;Zeuthen and N ielsen, 1973;Friedrich and Nielsen, 1974). Other inversions confirmed by band ing techniques, secondary constriction position, or autoradiography, or some combination of these, include most of the autosomes (W ilson et al, 1970;Faed et al, 1972;Hacksdottir et al, 1972;Wahrman et al, 1972;Allderdice, 1973;Bhasin et al, 1973;Crawfurd and Mason, 1973;D utrillaux et al, 1973;Howard et al, 1973;Warter et al, 1973;Ferguson-Smith, 1974;Jacobs et al, 1974).…”

A case of a reciprocal translocation between the Y and No. 1 chromosomes

“…Since banding techniques were introduced, many cases of structural abnormalities of the Y chromosome have been described; isochromosomes of the long arm (Book et al, 1973;Magnelli et al, 1974) and short arm (Siebers et al, 1973), pericentric inversions (Grace et al, 1972;Zeuthen and Nielsen, 1973), deletion of the long arm (Meisner and Inborn, 1972) and dicentric Y chromosomes (Cohen et al, 1973). However, relatively few cases of translocation between autosomes and Y chromosomes have been reported.…”

Uses of banding techniques for the identification of human diseases of cytogenetic origin.

“…A Y-autosome translocation was demonstrated by the presence of the intensely fluorescent Y body at the end of a translocation chromosome involving the long arm of 14 (35). A pericentric inversion of the Y was traced through four generations (36), and an unusually long X chromosome with an interstitial C-band has been described (37). There has also been a fruitless search for a fluorescent Y-body lurking in the karyotypes of XX males (38).…”