Deletions of the Y chromosome are associated with sex chromosome aneuploidy but not with Klinefelter syndrome

2011 ◽  
Vol 100 (6) ◽  
pp. 900-902 ◽  
Author(s):  
E Rajpert-De Meyts ◽  
AM Ottesen ◽  
ID Garn ◽  
L Aksglaede ◽  
A Juul
Keyword(s):  
Y Chromosome ◽  
Sex Chromosome ◽  
Klinefelter Syndrome ◽  
Sex Chromosome Aneuploidy ◽  
Chromosome Aneuploidy

scholarly journals DNA methylation-based sex classifier to predict sex and identify sex chromosome aneuploidy

2020 ◽  
Author(s):  
Yucheng Wang ◽  
Eilis Hannon ◽  
Olivia A Grant ◽  
Tyler J Gorrie-Stone ◽  
Meena Kumari ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Sex Chromosome ◽  
Klinefelter Syndrome ◽  
Association Studies ◽  
Gene Expression Omnibus ◽  
Sex Chromosome Aneuploidy ◽  
Chromosome Aneuploidy ◽  
Wide Range ◽  
Almost All ◽  
Methylation Patterns

AbstractSex is an important covariate of epigenome-wide association studies due to its strong influence on DNA methylation patterns across numerous genomic positions. Nevertheless, many samples on the Gene Expression Omnibus (GEO) frequently lack a sex annotation or are incorrectly labelled. Considering the influence that sex imposes on DNA methylation patterns, it is necessary to ensure that methods for filtering poor samples and checking of sex assignment are accurate and widely applicable. In this paper, we presented a novel method to predict sex using only DNA methylation density signals, which can be readily applied to almost all DNA methylation datasets of different formats (raw IDATs or text files with only density signals) uploaded to GEO. We identified 4345 significantly (p < 0.01) sex-associated CpG sites present on both 450K and EPIC arrays, and constructed a sex classifier based on the two first components of PCAs from the two sex chromosomes. The proposed method is constructed using whole blood samples and exhibits good performance across a wide range of tissues. We further demonstrated that our method can be used to identify samples with sex chromosome aneuploidy, this function is validated by five Turner syndrome cases and one Klinefelter syndrome case. The proposed method has been integrated into the wateRmelon Bioconductor package.

scholarly journals DNA methylation-based sex classifier to predict sex and identify sex chromosome aneuploidy

BMC Genomics ◽  
2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Yucheng Wang ◽  
Eilis Hannon ◽  
Olivia A. Grant ◽  
Tyler J. Gorrie-Stone ◽  
Meena Kumari ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Sex Chromosome ◽  
Klinefelter Syndrome ◽  
Association Studies ◽  
Gene Expression Omnibus ◽  
Sex Chromosome Aneuploidy ◽  
Chromosome Aneuploidy ◽  
Wide Range ◽  
Almost All ◽  
Methylation Patterns

Abstract Background Sex is an important covariate of epigenome-wide association studies due to its strong influence on DNA methylation patterns across numerous genomic positions. Nevertheless, many samples on the Gene Expression Omnibus (GEO) frequently lack a sex annotation or are incorrectly labelled. Considering the influence that sex imposes on DNA methylation patterns, it is necessary to ensure that methods for filtering poor samples and checking of sex assignment are accurate and widely applicable. Results Here we presented a novel method to predict sex using only DNA methylation beta values, which can be readily applied to almost all DNA methylation datasets of different formats (raw IDATs or text files with only signal intensities) uploaded to GEO. We identified 4345 significantly (p<0.01) sex-associated CpG sites present on both 450K and EPIC arrays, and constructed a sex classifier based on the two first principal components of the DNA methylation data of sex-associated probes mapped on sex chromosomes. The proposed method is constructed using whole blood samples and exhibits good performance across a wide range of tissues. We further demonstrated that our method can be used to identify samples with sex chromosome aneuploidy, this function is validated by five Turner syndrome cases and one Klinefelter syndrome case. Conclusions This proposed sex classifier not only can be used for sex predictions but also applied to identify samples with sex chromosome aneuploidy, and it is freely and easily accessible by calling the ‘estimateSex’ function from the newest wateRmelon Bioconductor package (https://github.com/schalkwyk/wateRmelon).

Fire Setting and Klinefelter Syndrome

PEDIATRICS ◽  
1989 ◽  
Vol 84 (4) ◽  
pp. 749-749
Author(s):  
STEPHEN G. KALER ◽  
BEVERLY J. WHITE ◽  
MARKUS J.P. KRUESI
Keyword(s):  
Replacement Therapy ◽  
Sex Chromosome ◽  
Klinefelter Syndrome ◽  
Testosterone Replacement ◽  
Testosterone Replacement Therapy ◽  
Sex Chromosome Aneuploidy ◽  
Chromosome Aneuploidy ◽  
Fire Setting

Miller and Sulkes' recently described an association between XXY sex chromosome aneuploidy (Klinefelter syndrome) and chronic fire-setting behavior. The association was noted in four individuals evaluated by them in Rochester, NY, during a 4-year peroid and was observed in 19% (6 of 31 persons) of XXY individuals reported by others. Following institution of testosterone replacement therapy, the 3 of their patients for whom follow-up was available had no evidence of additional fire-setting behavior.

scholarly journals EXPERIMENTAL POPULATION GENETICS OF MEIOTIC DRIVE SYSTEMS. III. NEUTRALIZATION OF SEX-RATIO DISTORTION IN DROSOPHILA THROUGH SEX-CHROMOSOME ANEUPLOIDY

Genetics ◽  
1981 ◽  
Vol 98 (2) ◽  
pp. 317-334
Author(s):  
Terrence W Lyttle
Keyword(s):  
Sex Ratio ◽  
Y Chromosome ◽  
Sex Chromosome ◽  
Meiotic Drive ◽  
Generation Model ◽  
Sex Chromosome Aneuploidy ◽  
Population Extinction ◽  
Chromosome Aneuploidy ◽  
Ratio Distortion ◽  
Sex Ratio Distortion

ABSTRACT Laboratory populations of Drosophila melanogaster were challenged by pseudo-Y drive, which mimics true Y-chromosome meiotic drive through the incorporation of Segregation Distorter (SD) in a T(Y;2) complex. This causes extreme sex-ratio distrotion and can ultimately lead to population extinction. Populations normally respond by the gradual accumulation of drive suppressors, and this reduction in strength of distortion allows the sex ratio to move closer to the optimal value of 1:1. One population monitored, however, was rapidly able to neutralize the effects of sex-ratio distortion by the accumulation of sex-chromosome aneuploids (XXY, XYY). This apparently occurs because XX-bearing eggs, produced in relatively high numbers (~4%) by XXY genotypes, become the main population source of females under strong Y-chromosome drive. Computer simulation for a discrete generation model incorporating random mating with differences in fitness and segregation permits several predictions that can be compared to the data. First, sex-chromosome aneuploids should rapidly attain equilibrium, while stabilizing the population at ~60% males. This sex ratio should be roughly independent of the strength of the meiotic drive. Moreover, conditions favoring the accumulation of drive suppressors (e.g., weak distortion, slow population extinction) are insufficient for maintaining aneuploidy, while conditions favoring aneuploidy (e.g., strong distortion, low production of females) lead to population extinction before drive suppressors can accumulate. Thus, the different mechanisms for neutralizing sex-ratio distortion are complementary. In addition, Y drive and sex-chromosome aneuploidy are potentially co-adaptive, since under some conditions neither will survive alone. Finally, these results suggest the possibility that genetic variants promoting sex-chromosome nondisjunction may have a selective advantage in natural populations faced with sex-ratio distortion.

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