Fluorescence in-situ hybridization of sex chromosomes in spermatozoa and spare preimplantation embryos of a Klinefelter 46,XY/47,XXY male

Bielanska, Magdalena; Tan, Seang Lin; Ao, Asangla

doi:10.1093/humrep/15.2.440

Cited by 51 publications

(36 citation statements)

References 33 publications

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“…To date 54 normal children have been born from 122 men with KS by ICSI with testicular (48 children, 118 patients) or ejaculated spermatozoa (six children from four patients) Tournaye et al, 1996Tournaye et al, , 1997Bourne et al, 1997;Hinney et al, 1997;Palermo et al, 1998;Reubinoff et al, 1998;Nodar et al, 1999;Ron-El et al, 1999, 2000aKitamura et al, 2000;Levron et al, 2000;Cruger et al, 2001;Friedler et al, 2001;Greco et al, 2001;Poulakis et al, 2001;Rosenlund et al, 2002;Yamamoto et al, 2002;Kahraman et al, 2003;Staessen et al, 2003;Tachdjian et al, 2003;Ulug et al, 2003). Three cases of chromosomally abnormal embryos (47,XXY) resulting in abortion have been reported (Reubinoff et al, 1998;Ron-El et al, 2000b;Friedler et al, 2001), and other studies reported a high number of aneuploidy embryos discovered by preimplantation genetic diagnosis (Bielanska et al, 2000;Kahraman et al, 2003;Staessen et al, 2003). Therefore, although the great majority of children born to fathers with KS are chromosomally normal, the risk of producing offspring with chromosome aneuploidies is significant, particularly the risk of fathering a 47,XXY or 47,XXX child (Reubinoff et al, 1998;Ron-El et al, 2000b).…”

Section: Klinefelter Syndromementioning

confidence: 99%

Chromosome abnormalities in sperm of individuals with constitutional sex chromosomal abnormalities

Ferlin¹,

Garolla²

2005

Cytogenet Genome Res

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The most common type of karyotype abnormality detected in infertile subjects is represented by Klinefelter’s syndrome, and the most frequent non-chromosomal alteration is represented by Y chromosome long arm microdeletions. Here we report our experience and a review of the literature on sperm sex chromosome aneuploidies in these two conditions. Non mosaic 47,XXY Klinefelter patients (12 subjects) show a significantly lower percentage of normal Y-bearing sperm and slightly higher percentage of normal X-bearing sperm. Consistent with the hypothesis that 47,XXY germ cells may undergo and complete meiosis, aneuploidy rate for XX- and XY-disomies is also increased with respect to controls, whereas the percentage of YY-disomies is normal. Aneuploidy rates in men with mosaic 47,XXY/46,XY (11 subjects) are lower than those observed in men with non-mosaic Klinefelter’s syndrome, and only the frequency of XY-disomic sperm is significantly higher with respect to controls. Although the great majority of children born by intracytoplasmic sperm injection from Klinefelter subjects are chromosomally normal, the risk of producing offspring with chromosome aneuploidies is significant. Men with Y chromosome microdeletions (14 subjects) showed a reduction of normal Y-bearing sperm, and an increase in nullisomic and XY-disomic sperm, suggesting an instability of the deleted Y chromosome causing its loss in germ cells, and meiotic alterations leading to XY non-disjunction. Intracytoplasmic injection of sperm from Y-deleted men will therefore transmit the deletion to male children, and therefore the spermatogenic impairment, but raises also concerns of generating 45,X and 47,XXY embryos.

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Section: Klinefelter Syndromementioning

confidence: 99%

Chromosome abnormalities in sperm of individuals with constitutional sex chromosomal abnormalities

Ferlin¹,

Garolla²

2005

Cytogenet Genome Res

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“…Analysis of the meiotic products by sperm-FISH revealed an increase in the frequency of XY and XX spermatozoa in the sperm of some KS patients [Chevret et al, 1996;Martini et al, 1996;Guttenbach et al, 1997;Estop et al, 1998;Foresta et al, 1998;Kruse et al, 1998;Lim et al, 1999;Bielanska et al, 2000;Morel et al, 2000;Rives et al, 2000]. Some authors have suggested that the formation of these aneuploid gametes arises from abnormal meiosis of normal XY spermatogonia in a 'compromised testicular environment' [Mroz et al, 1999b].…”

Section: Discussionmentioning

confidence: 99%

“…Most meiotic studies carried out on non-mosaic Klinefelter patients concluded that XXY cells were unable to enter meiosis [Kjessler, 1966;Luciani et al, 1970;Dutrillaux et al, 1971;Laurent et al, 1973;Blanco et al, 2001;Sciurano et al, 2009]. However, the analysis of meiotic products by sperm-FISH revealed an increase in the frequency of XY and XX spermatozoa in the sperm of some patients [Chevret et al, 1996;Martini et al, 1996;Guttenbach et al, 1997;Estop et al, 1998;Foresta et al, 1998;Kruse et al, 1998;Lim et al, 1999;Bielanska et al, 2000;Morel et al, 2000;Rives et al, 2000]. The presence of 24,XY or 24,XX spermatozoa and distortion of the sex ratio suggests that XXY cells may enter and complete meiosis.…”

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confidence: 99%

Meiotic Studies of a 38,XY/39,XXY Mosaic Boar

Pinton

Barasc

Raymond‐Letron

et al. 2010

Cytogenet Genome Res

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Klinefelter’s syndrome (KS) is the most common sex chromosome abnormality identified in human males. This syndrome is generally associated with infertility. Men with KS may have a 47,XXY or a 46,XY/47,XXY karyotype. Studies carried out in humans and mice suggest that only XY cells are able to enter and complete meiosis. These cells could originate from the XY cells present in mosaic patients or from XXY cells that have lost one X chromosome. In pig, only 3 cases of pure 39,XXY have been reported until now, and no meiotic analysis was carried out. For the first time in pig species we report the analysis of a 38,XY/39,XXY boar and describe the origin of the supplementary X chromosome and the chromosomal constitutions of the germ and Sertoli cells.

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“…The only one euploid embryo obtained was transferred and (Munné et al, 1998b). However, children of these patients also have high risk of sex chromosomal abnormalities (Bielanska et al, 2000). Clinical features of these patients can vary from germinal aplasia, sub-infertile, to nearly normal phenotypes.…”

Section: Discussionmentioning

confidence: 99%

Identification of embryonic chromosomal abnormality using FISH-based preimplantaion genetic diagnosis

Fan

et al. 2004

J. Zheijang Univ.-Sci.

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Abstract:Objective: Embryonic chromosomal abnormality is one of the main reasons for in vitro fertilization (IVF) failure. This study aimed at evaluating the value of Fluorescence in-situ Hybridization (FISH)-based Preimplantation Genetic Diagnosis (PGD) in screening for embryonic chromosomal abnormality to increase the successful rate of IVF. Method: Ten couples, four with high risk of chromosomal abnormality and six infertile couples, underwent FISH-based PGD during IVF procedure. At day 3, one or two blastomeres were aspirated from each embryo. Biopsied blastomeres were examined using FISH analysis to screen out embryos with chromosomal abnormalities. At day 4, embryos without detectable chromosomal abnormality were transferred to the mother bodies as in regular IVF. Results: Among 54 embryos screened using FISH-based PGD, 30 embryos were detected to have chromosomal abnormalities. The 24 healthy embryos were implanted, resulting in four clinical pregnancies, two of which led to successful normal birth of two healthy babies; one to ongoing pregnancy during the writing of this article; and one to ectopic pregnancy. Conclusion: FISH-based PGD is an effective method for detecting embryonic chromosomal abnormality, which is one of the common causes of spontaneous miscarriages and chromosomally unbalanced offsprings.

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Fluorescence in-situ hybridization of sex chromosomes in spermatozoa and spare preimplantation embryos of a Klinefelter 46,XY/47,XXY male

Cited by 51 publications

References 33 publications

Chromosome abnormalities in sperm of individuals with constitutional sex chromosomal abnormalities

Chromosome abnormalities in sperm of individuals with constitutional sex chromosomal abnormalities

Meiotic Studies of a 38,XY/39,XXY Mosaic Boar

Identification of embryonic chromosomal abnormality using FISH-based preimplantaion genetic diagnosis

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