Meiosis and Testicular Histology in Xyy Males

Tettenborn, U.; Gropp, A.; Murken, Jan; W, Tinnefeld; Fuhrmann, Walter; Schwinger, E.

doi:10.1016/s0140-6736(70)92621-8

Cited by 28 publications

(10 citation statements)

References 16 publications

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“…The increase in disomic Y and diploid Y sperm nuclei would therefore be the consequence of the excess of 23,Y bearing spermatocytes II. This hypothesis is supported by previous observations in testicular biopsies from XYY males (Table 4) showing a few primary spermatocytes containing a YY bivalent with an X univalent, and secondary spermatocytes with 23 chromosomes (Hultén 1970;Tettenborn et al 1970;Hultén and Pearson 1971;Berthelsen et al 1981;Speed et al 1991). Moreover, according to Burgoyne (1979) the presence of XY bivalents would result in meiotic I arrest, whereas a YY pairing associated with a free X chromosome would not affect the spermatogenic process.…”

Section: Discussionsupporting

confidence: 70%

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Meiotic behaviour of sex chromosomes investigated by three-colour FISH on 35 142 sperm nuclei from two 47,XYY males

et al. 1997

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Meiotic segregation of sex chromosomes from two fertile 47,XYY men was analysed by a three-colour fluorescence in situ hybridisation procedure. This method allows the identification of hyperhaploidies (spermatozoa with 24 chromosomes) and diploidies (spermatozoa with 46 chromosomes), and their meiotic origin (meiosis I or II). Alpha-satellite probes specific for chromosomes X, Y and 1 were observed simultaneously in 35,142 sperm nuclei. For both 47,XYY men (24,315 sperm nuclei analysed from one male and 10,827 from the other one) the sex ratio differs from the expected 1:1 ratio (P < 0.001). The rates of disomic Y, diploid YY and diploid XY spermatozoa were increased for both 47,XYY men compared with control sperm (142,050 sperm nuclei analysed from five control men), whereas the rates of hyperhaploidy XY, disomy X and disomy 1 were not significantly different from those of control sperm. These results support the hypothesis that the extra Y chromosome is lost before meiosis with a proliferative advantage of the resulting 46,XY germ cells. Our observations also suggest that a few primary spermatocytes with two Y chromosomes are able to progress through meiosis and to produce Y-bearing sperm cells. A theoretical pairing of the three gonosomes in primary spermatocytes with an extra sex chromosome, compatible with active spermatogenesis, is proposed.

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Section: Discussionsupporting

confidence: 70%

“…From these studies it has been assumed that only normal 46,XY germ cells are able to progress through meiosis. Therefore, the loss of the extra Y chromosome must occur before XYY germ cells enter meiosis (Evans et al 1970;Tettenborn et al 1970) or during the first step of the meiotic process (Melnyk et al 1969).…”

Section: Introductionmentioning

confidence: 99%

Meiotic behaviour of sex chromosomes investigated by three-colour FISH on 35 142 sperm nuclei from two 47,XYY males

et al. 1997

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“…Since the first report of a 47,XYY man [Hauschka et al, 1962], numerous studies on the chromosome constitution of germ cells and testicular histology of these patients have been made, using conventional cytogenetic methods (Table I), histological approaches [Tettenborn et al, 1970;Skakkebaek et al, 1970Skakkebaek et al, , 1973aBaghdassarian et al, 1975;Faed et al, 1976;Mü ller et al, 1995], and recently fluorescence in situ hybridization (FISH) techniques (Table II). The major findings of these studies are as follows: 1) persistence of the extra Y chromosome in germ cells can impair testicular tubules and result in low sperm counts in 47,XYY males; 2) the extra Y chromosome is lost from most germ cells of 47,XYY men; 3) some XYY cells can survive meiosis and result in gonosomally aneuploid sperm; and 4) frequencies of germ cells with gonosomal abnormality, assessed by conventional cytogenetic methods, FISH, or electron microscopically synaptonemal complex observation [Speed et al, 1991;GabrielRobez et al, 1996;Solari and Rey Valzacchi, 1997;Berthelsen et al, 1981], were very different among studies an between patients studied by the same group [Chevret et al, 1997;Martini et al, 1996].…”

Section: Introductionmentioning

confidence: 99%

Multicolor fluorescence in situ hybridization analysis of meiotic chromosome segregation in a 47,XYY male and a review of the literature

Shi

Martin

2000

Am. J. Med. Genet.

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The frequencies of aneuploid and diploid sperm were determined in a 47,XYY male using multi-color fluorescence in situ hybridization (FISH) analysis, and compared with those from 10 control donors. A total of 30,078 sperm from the patient was scored, 15,044 by two-color FISH for chromosomes 13 and 21, and 15,034 by three-color FISH for the sex chromosomes using chromosome 1 as an internal autosomal control for diploidy and lack of hybridization. The frequencies of X-bearing (49.73%) and Y-bearing sperm (49.46%) in control males were not significantly different from the expected 50% (chi(2)-test for goodness of fit). The ratio of 24,X (50.60%) to 24, Y sperm (48.35%) in the patient, however, was significantly different from the controls (P = 0.0144, chi(2)-test for independence) and from the expected 1:1 ratio (P = 0.0055, chi(2)-test for goodness of fit). There was no significant increase in the frequency of diploid sperm when compared with the controls (chi(2)-test for independence). Significantly increased frequencies were found for 24,YY (0.07% vs. 0.02%, P = 0.0009) and 24,XY (0.44% vs. 0.29%, P = 0.0025), but not for 24,XX (0.05% vs. 0.05%, P > 0. 05), 24,+13 (0.07% vs. 0.07%, P > 0.05) or 24,+21 sperm (0.21% vs. 0. 18%, P > 0.05) in the 47,XYY male when compared with control donors (chi(2)-test for independence). Our results support the theory that loss of the extra Y chromosome occurs during spermatogenesis in most cells. In this XYY patient there was a significant increase in the frequency of sperm with sex chromosomal abnormalities but no suggestion of an inter-chromosomal effect on autosomes. All 3-color FISH studies in the literature demonstrate a significantly increased risk of gonosomal aneuploidy in XYY males, with the risk being on the order of 1%.

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“…Although former data from testicular biopsies (Thompson et al 1967;Melnyk et al 1969;Evans et al 1970;Hsu et al 1970;Tettenborn et al 1970;Hultén and Pearson 1971;Luciani et al 1973;Chandley et al 1976;Faed et al 1976) or from human sperm chromosome studies (Benet and Martin 1988) seemed to indicate that in 47,XYY males the extra Y chromosome was lost in the early stages of spermatogenesis (spermatogonia), the recent results of Chrevret (1995) obtained by triple-colour fluorescent in situ hybridization (FISH) suggested that, at least in some individuals, the 47,XYY line can enter meiosis and produce an excess of disomic 24,YY spermatozoa, as well as an increased number of diploid 46,XY or 46,YY sperm. In fact, Speed et al (1991) had already demonstrated that 47,XYY cells can initiate the first meiotic division; in their work, the most common organization of the sex chromosomes at pachytene was an X univalent plus a YY bivalent.…”

Section: Introductionmentioning

confidence: 99%

Increased incidence of disomic sperm nuclei in a 47,XYY male assessed by fluorescent in situ hybridization (FISH)

et al. 1997

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Using triple-colour fluorescent in situ hybridization in decondensed sperm heads, we assessed the sex-chromosome distribution in spermatozoa from a 47,XYY male compared with controls. The incidence of spermatozoa with 24,XY (0.30%) and 24,YY (1.01%) disomy was significantly higher than in our control series. Diploid meiocytes present in the ejaculate were mainly 47,XYY (60.6-86.7%), and haploid meiocytes were mainly 24,XY (78.1%).These results suggest that, although the extra Y chromosome is thought to be eliminated during spermatogenesis, XYY germ cells can complete meiosis and produce disomic spermatozoa.

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Meiosis and Testicular Histology in Xyy Males

Cited by 28 publications

References 16 publications

Meiotic behaviour of sex chromosomes investigated by three-colour FISH on 35 142 sperm nuclei from two 47,XYY males

Meiotic behaviour of sex chromosomes investigated by three-colour FISH on 35 142 sperm nuclei from two 47,XYY males

Multicolor fluorescence in situ hybridization analysis of meiotic chromosome segregation in a 47,XYY male and a review of the literature

Increased incidence of disomic sperm nuclei in a 47,XYY male assessed by fluorescent in situ hybridization (FISH)

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