Sperm aneuploidy in fathers of Klinefelter’s syndrome offspring assessed by multicolour fluorescent in situ hybridization using probes for chromosomes 6, 13, 18, 21, 22, X and Y

Arnedo, Núria; Templado, C.; Sánchez-Blanque, Yolanda; Rajmil, Osvaldo; Nogués, Carme

doi:10.1093/humrep/dei321

Cited by 30 publications

(17 citation statements)

References 23 publications

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“…Likewise, Tempest et al [2009], after testing 10 donors 4 times in an 18-month period, identified 1 stable variant consistently producing higher levels of disomy 2 and 13 generating an elevated number of diploid spermatozoa. Increased disomy levels of similar orders of magnitude have been reported in spermatozoa from men who have fathered aneuploid offspring [Blanco et al, 1998;Martínez-Pasarell et al, 1999;Soares et al, 2001a, b;Arnedo et al, 2006]. These findings suggest that men with a moderately elevated aneuploidy rate may be at a higher risk of fathering paternally derived aneuploid pregnancies.…”

Section: Inter-individual and Intra-individual Variabilitysupporting

confidence: 62%

“…To answer this question our group carried out FISH studies in spermatozoa of a total of 15 fathers of aneuploid offspring of paternal origin: 2 Down syndrome (DS) fathers [Blanco et al, 1998;Soares et al, 2001a], 4 Turner syndrome (TS) fathers [Martínez-Pasarell et al, 1999;Soares et al, 2001b], and 9 Klinefelter fathers (KS) [Arnedo et al, 2006]. These studies have shown a doubling of sperm disomy for the chromosome pair implicated in the aneuploid offspring (21 and XY disomies) in all 3 father groups when compared with the internal control donors ( table 2 ).…”

Section: Sperm Aneuploidy In Fathers With Paternally Inherited Aneuplmentioning

confidence: 99%

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Aneuploidy in Human Spermatozoa

Templado

Vidal

Estop

2011

Cytogenet Genome Res

101

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We reviewed the frequency and distribution of disomy in spermatozoa obtained by multicolor-FISH analysis on decondensed sperm nuclei in (a) healthy men, (b) fathers of aneuploid offspring of paternal origin and (c) individuals with Klinefelter syndrome and XYY males. In series of healthy men, disomy per autosome is approximately 0.1% but may range from 0.03 (chromosome 8) to 0.47 (chromosome 22). The great majority of authors find that chromosome 21 (0.18%) and the sex chromosomes (0.27%) have significantly elevated frequencies of disomy although these findings are not universal. The total disomy in FISH studies is 2.26% and the estimated aneuploidy (2× disomy) is 4.5%, more than double that seen in sperm karyotypes (1.8%). Increased disomy levels of low orders of magnitude have been reported in spermatozoa of some normal men (stable variants) and in men who have fathered children with Down, Turner and Klinefelter syndromes. These findings suggest that men with a moderately elevated aneuploidy rate may be at a higher risk of fathering paternally derived aneuploid pregnancies. Among lifestyle factors, smoking, alcohol and caffeine have been studied extensively but the compounding effects of the 3 are difficult to separate because they are common lifestyle behaviors. Increases in sex chromosome abnormalities, some autosomal disomies, and in the number of diploid spermatozoa are general features in 47,XXY and 47,XYY males. Aneuploidy of the sex chromosomes is more frequent than aneuploidy of any of the autosomes not only in normal control individuals, but also in patients with sex chromosome abnormalities and fathers of paternally derived Klinefelter, Turner and Down syndromes.

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Section: Inter-individual and Intra-individual Variabilitysupporting

confidence: 62%

Section: Sperm Aneuploidy In Fathers With Paternally Inherited Aneuplmentioning

confidence: 99%

Aneuploidy in Human Spermatozoa

Templado

Vidal

Estop

2011

Cytogenet Genome Res

101

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“…This interdonor variation indicates that some fertile men consistently have high percentages of achiasmate homologues (e.g., donor 12) and may be at an increased risk of fathering aneuploid offspring. In fact, increased disomy levels have been reported in spermatozoa from men with Down (41), Turner (42), and Klinefelter syndrome children (43) for the chromosome pair implicated in their aneuploid offspring.…”

Section: Frequencies Of Meiotic Chromosome Abnormalities Vary Among Fmentioning

confidence: 99%

Meiotic chromosome abnormalities in fertile men: are they increasing?

Uroz

Rajmil

Templado

2011

Fertility and Sterility

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“…Although slightly, the risk of Patau and Edwards syndromes was also increased. Arnedo et al reported that the paternal age was associated with a higher frequency of sperm XY disomy only in fathers with paternally inherited Klinefelter syndrome offspring [58].…”

Section: Aneuploidiesmentioning

confidence: 99%

The Impact of Aging on Fertility: Similarities and Differences between Ovaries and Testes

Albu¹,

Albu²

2017

Testes and Ovaries - Functional and Clinical Differences and Similarities

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The increasing age seems to have a negative impact on reproductive functions not only in women but also in men. Therefore, our aim was to review the data available in the literature regarding the impact of advancing age on fertility and the mechanisms underlying this association in both genders. The available data suggest that the effects of age on ovarian function cause a decrease in fertility starting 13 years before menopause. Statistics show that 10% of women will have a decreased fertility starting with the age of 30. The impact of age on ovary is due to both decreased number and quality of the oocytes, resulting in a high rate of chromosomal aneuploidy in the embryo and mitochondria dysfunction. Assisted reproductive technologies aiming to identify competent embryo were created but for the moment the results are unsatisfactory. On the other hand, in men, the semen quality and testicular function were found to gradually decrease with age and most of the studies also describe a negative impact on fertility. The mechanisms underlying decreased fertility are mainly genetic and epigenetics changes. However, if the effects of age on male fertility in men can be overcome by assisted reproductive technologies is not clear yet as the results of the studies are inconsistent.

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Sperm aneuploidy in fathers of Klinefelter’s syndrome offspring assessed by multicolour fluorescent in situ hybridization using probes for chromosomes 6, 13, 18, 21, 22, X and Y

Abstract: XY disomy frequencies increase with advancing paternal age only in fathers with paternally inherited KS offspring.

Cited by 30 publications

References 23 publications

Aneuploidy in Human Spermatozoa

Aneuploidy in Human Spermatozoa

Meiotic chromosome abnormalities in fertile men: are they increasing?

The Impact of Aging on Fertility: Similarities and Differences between Ovaries and Testes

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