Analysis of sex chromosome aneuploidy in sperm from fathers of Turner syndrome patients

Martínez-Pasarell, O.; Nogués, Carme; Bosch, Mercè; Egozcue, J.; Templado, C.

doi:10.1007/s004390050964

Cited by 68 publications

(56 citation statements)

References 22 publications

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“…However, increased frequencies of chromosome 21 disomy have been found in spermatozoa from fathers of Down patients of paternal origin, 40,45 and an increase of XY disomy have been detected in fathers of Turner patients. 46 In at least one case, a man with an elevated frequency of 24,XY spermatozoa fathered a pregnancy with a 47,XXY karyotype, detected by prenatal diagnosis. 47 Moreover, taking into account that a large proportion of conceptuses are triploid, 44,48 the slight increases in numerical chromosome abnormalities detected in spermatozoa could have more clinical importance than has been recognised.…”

Section: Discussionmentioning

confidence: 99%

Linear increase of diploidy in human sperm with age: A four-colour FISH study

et al. 2001

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The aim of this study was to determine if donor age is associated with an increased incidence of diploidy and of disomy for the sex chromosomes and for chromosomes 6 and 21. We used simultaneous fluorescence in situ hybridisation (FISH) for chromosomes 6, 21, X and Y in sperm from 18 healthy donors, aged 24 ± 74 years (mean 48.8 years). A total of 194 024 sperm were analysed, with a minimum of 10 000 sperm scored for each donor. Our results indicate a significant increase of the level of diploidy (P=0.002), and a marginal significance of total sex chromosome disomy (P=0.055) with age. No increase was observed for disomies XX, YY, XY, 21 or 6. The percentages of increase for disomy and for diploidy ranged from 0.3 to 17% for each 10-year period. Chromosomes 6 and 21 did not segregate preferentially with the X or Y chromosomes. Our findings show a linear trend association between age and diploidy in human males.

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Section: Discussionmentioning

confidence: 99%

Linear increase of diploidy in human sperm with age: A four-colour FISH study

et al. 2001

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“…Sperm sex aneuploidies may be responsible for some of the most common genetic syndromes, such as Turner (46,XO) and Klinefelter (46,XXY). Recent evidence has shown that Turner syndrome has an estimated frequency of 1-2% among all clinically recognized pregnancies and that 70-80% of 46,XO patients retain the maternal X chromosome, because the paternal X chromosome is missing (23). Our findings were in agreement with the increased frequency of total sperm aneuploidies (0.30%) found in workers of a Chinese factory manufacturing methyl parathion, ethyl parathion, and metamidophos, compared with that of their controls (0.19%) (15).…”

Section: Discussionmentioning

confidence: 99%

Organophosphorous Pesticide Exposure Increases the Frequency of Sperm Sex Null Aneuploidy

Recio¹,

Robbins²,

Ocampo-Gomez³

et al. 2001

Environmental Health Perspectives

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“…To date, a handful of studies have retrospectively assessed the levels of sperm aneuploidy in men who have previously fathered paternally derived aneuploid offspring. [34][35][36][37][38] These studies suggest that, in almost all cases, the levels of aneuploidy in the sperm of these individuals are significantly higher than those reported in normal fertile men with no history of aneuploid offspring. One such study reported some of the highest sperm aneuploidy levels in one individual who subsequently fathered four consecutive aneuploid offspring (two of which were confirmed to be paternal in origin).…”

Section: How Does Sperm Aneuploidy Translate To Risk Of Aneuploid Offmentioning

confidence: 99%

Chromosomal disorders and male infertility

Harton¹,

Tempest²

2011

Asian J Androl

145

131

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Infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family. Despite this, the molecular and genetic factors underlying the cause of infertility remain largely undiscovered. Nevertheless, more and more genetic factors associated with infertility are being identified. This review will focus on our current understanding of the chromosomal basis of male infertility specifically: chromosomal aneuploidy, structural and numerical karyotype abnormalities and Y chromosomal microdeletions. Chromosomal aneuploidy is the leading cause of pregnancy loss and developmental disabilities in humans. Aneuploidy is predominantly maternal in origin, but concerns have been raised regarding the safety of intracytoplasmic sperm injection as infertile men have significantly higher levels of sperm aneuploidy compared to their fertile counterparts. Males with numerical or structural karyotype abnormalities are also at an increased risk of producing aneuploid sperm. Our current understanding of how sperm aneuploidy translates to embryo aneuploidy will be reviewed, as well as the application of preimplantation genetic diagnosis (PGD) in such cases. Clinical recommendations where possible will be made, as well as discussion of the use of emerging array technology in PGD and its potential applications in male infertility.

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Analysis of sex chromosome aneuploidy in sperm from fathers of Turner syndrome patients

Cited by 68 publications

References 22 publications

Linear increase of diploidy in human sperm with age: A four-colour FISH study

Linear increase of diploidy in human sperm with age: A four-colour FISH study

Organophosphorous Pesticide Exposure Increases the Frequency of Sperm Sex Null Aneuploidy

Chromosomal disorders and male infertility

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