Two mosaic‐YY males carrying asymmetric Y chromosomes

Zelante, Leopoldo; Dallapiccola, Bruno; Calvano, Savino; Memeo, Elena; Gasparini, Paolo; Simi, Paolo; Rossi, Silvia; Finelli, Palma; Rocchi, Mariano; Archidiacono, Nicoletta

doi:10.1111/j.1399-0004.1997.tb02418.x

Cited by 2 publications

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References 14 publications

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“…To our knowledge, this is the first time that ultrastructural sperm analysis and FISH have been performed in a carrier of this type of mosaicism. Recently, a correlation between abnormal karyotypes and human male infertility has become more evident [6,7,[13][14][15].…”

Section: Discussionmentioning

confidence: 99%

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Sperm ultrastructure and 18, X, Y aneuploidies in a man with a 46 XY, 47 XY + 18 mosaic karyotype: case report

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Cosci

Pascarelli

et al. 2007

J Assist Reprod Genet

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Purpose To describe sperm morphology and meiotic segregation in the case of a man with a 46 XY/ 47 XY+ 18 mosaic karyotype. Materials and methods A 25-year-old man came to our Centre for semen analysis. Morphological sperm evaluation was performed by light and electron microscopy; meiotic segregation was examined by fluorescence in situ hybridisation (FISH) technique using probes for chromosomes 18, X and Y. PCR was carried out on DNA from peripheral blood lymphocytes to analyze Y microdeletions. Results Mathematically elaborated transmission electron microscopy data highlighted a low number of sperm devoid of ultrastructural defects, and the presence of characteristics of apoptosis and immaturity. FISH showed the presence of aneuploidies of chromosome 18 and sex chromosomes. Conclusions In this case of mosaicism morphological and meiotic spermatogenetic impairment is shown, as well as structural chromosomal alterations.

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Section: Discussionmentioning

confidence: 99%

“…However, fluorescent in situ hybridization (FISH) studies in spermatozoa from carriers of sex chromosome mosaicism have revealed a significantly high number of hyperaploid spermatozoa [6,7] and these patients may risk producing offspring with an altered sex constitution.…”

Section: Introductionmentioning

confidence: 99%

Sperm ultrastructure and 18, X, Y aneuploidies in a man with a 46 XY, 47 XY + 18 mosaic karyotype: case report

Collodel

Cosci

Pascarelli

et al. 2007

J Assist Reprod Genet

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show abstract

Meiotic segregation of sex chromosomes in mosaic and non‐mosaic XYY males: case reports and review of the literature

et al. 2003

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The aim of this study was to determine the incidence of sex chromosome aneuploidy in spermatozoa of two males with a 47,XYY karyotype and one male with a 46,XY/47,XYY constitution. Spermatozoa obtained from two oligospermic patients and one volunteer semen donor were studied by multicolour fluorescence in situ hybridization. In the XY/XYY male, the frequencies of X-bearing to Y-bearing sperm were significantly different from the 1 : 1 expected ratio. Significantly increased frequencies were found in the mosaic and non-mosaic males for 24,XX and 24,YY sperm when compared with control donors. The number of 24,XY sperm was significantly different from the controls in the XYY males, but not in the mosaic male. The incidence of disomy 18 and the rate of diploidy also increased in the three patients. However, the mosaic male had the lowest cumulative rate of disomic and diploid spermatozoa when compared with the two XYY patients. Our data suggest that: (i) chromosome abnormalities observed in spermatozoa of the two XYY oligoasthenoteratospermic (OAT) males arise through segregation errors in XY germ cells rather than normal meiosis of XYY germ cells, (ii) mosaic XYY males with normal semen parameters have a lower risk of producing offspring with a sex chromosomal abnormality than OAT males with XYY karyotype.

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Two mosaic‐YY males carrying asymmetric Y chromosomes

Cited by 2 publications

References 14 publications

Sperm ultrastructure and 18, X, Y aneuploidies in a man with a 46 XY, 47 XY + 18 mosaic karyotype: case report

Sperm ultrastructure and 18, X, Y aneuploidies in a man with a 46 XY, 47 XY + 18 mosaic karyotype: case report

Meiotic segregation of sex chromosomes in mosaic and non‐mosaic XYY males: case reports and review of the literature

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