Sex chromosome aneuploidies

Skuse, David; Printzlau, Frida; Wolstencroft, Jeanne

doi:10.1016/b978-0-444-63233-3.00024-5

Cited by 62 publications

(68 citation statements)

References 145 publications

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“…In addition, the level of misdiagnosis could be determined by strictly following the national guideline and follow-up system. In the study, the incidence of all SCAs (8.77‰, about 1/114), 45,X (1.27‰, 1/787), 47,XXY (3.42‰, 1/292), 47,XXX (2.16‰, 1/463), 47,XYY (1.91‰, 1/524) was much higher than earlier publication [4][5]. There were several factors that might affect this result.…”

Section: Discussionmentioning

confidence: 61%

“…SCAs occur with a frequency of 1 in 500, an incidence greater than that of trisomy 21 [3]. SCAs are a common group of chromosome disorders characterized by the loss or gain of one or more sex chromosomes, including 45,X (Turner syndrome; 1/2000 female livebirths), 47,XXX (Triple X syndrome; 1/1000 female livebirths), 47,XXY (Klinefelter syndrome; 1/600 male livebirths), 47,XYY (47,XYY syndrome; 1/1000 male livebirths), as well as rare SCAs such as 48,XXXX, 48,XXXY, 48,XXYY and 69,XXX [4][5]. The karyotype analysis of amniotic uid cells in the second-trimester is the main method for detecting fetal chromosomal aberrations and is regarded as the gold standard for cytogenetic diagnosis currently [6].…”

Section: Introductionmentioning

confidence: 99%

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The Correlation Between Maternal Age and Fetal Sex Chromosome Aneuploidies: A 8-Year Single Institution Experience in China

2020

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Background: To date, it has been widely accepted that the risk of autosomal aneuploidies (including T21, T18 and T13) is directly related to the increase in maternal age. However, up to now, the relationship between maternal age and fetal sex chromosome aneuploidies (SCAs) was still unclear. This study aimed to investigate maternal age-specific rates for common SCAs (including 45,X, 47,XXY, 47,XXX and 47,XYY) in fetuses. Methods: We retrospectively investigated a 8-year experience of prenatal diagnosis for fetal chromosome aberrations by second-trimester amniocentesis at a university teaching hospital in China. 20,409 amniotic fluid specimens collected at 19–22+6 gestational weeks were included in this study. Conventional cytogenetic analysis was performed on all samples. Maternal age was as the only indication for the statistical analysis. The women were categorized into five age groups (≤23, 24-28, 29-33, 34-38, ≥39 years) based on maternal age at the time of amniocentesis and entered as a categorical variable in all samples. The correlation between fetal SCAs and maternal age was determined using the logistic regression analysis. A chi-square test was performed to compare the incidence of fetal SCAs among age groups. Results: A total of 179 cases of fetal SCAs were detected, and the incidence was 8.77‰ (about 1/114), far higher than the earlier publication of 1/500. The incidence of all SCAs increased significantly with advancing maternal age (SE, 0.014; odds ratio, 1.044; P=0.002), from 5.81 per 1,000 fetuses at the 24-28 years to 10.92 per 1,000 at the ≥39 years. The incidence of all SCAs was also significantly different among age groups (χ2=10.197, P=0.037<0.05). Specifically, the incidence of 45,X (SE, 0.037; odds ratio, 0.916; P=0.017) and 47,XXY (SE, 0.024; odds ratio, 1.127; P=0.000) had significant correlation with maternal age, while the incidence of 47,XXX and 47,XYY had no correlation with maternal age (P=0.473; P=0.272, respectively). Conclusions: Maternal age was ascertained to be a strong risk factor for fetal SCAs. The incidence of 45,X and 47,XXY was significantly correlated with maternal age, while the incidence of 47,XXX and 47,XYY was not.

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Section: Discussionmentioning

confidence: 61%

Section: Introductionmentioning

confidence: 99%

The Correlation Between Maternal Age and Fetal Sex Chromosome Aneuploidies: A 8-Year Single Institution Experience in China

2020

Preprint

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“…Similar to current assays employing techniques to detect indel variations and polymorphisms in AMELX/Y [7–9], ZFX/Y [14, 15], or hypothesized human sex chromosome genes [16], NLGN4X/Y is primarily suitable to discriminate both genes commonly found in 46,XX or 46,XY pairs. At this point, we cannot predict the performance of these assays in rare cases of aneuploidy found in Turner Syndrome (45,X), Klinefelter Syndrome (47,XXY), double Y males (47,XYY), or triple X females (47,XXX) [26]. Furthermore, genomic rearrangements such as men with a translocated SRY gene, e.g., in cases of 46,XX sex reversal [27] or deletions including NLGN4X [28, 29], will affect the interpretation of the data regarding the PCR as well as the SNP-based strategy.…”

Section: Discussionmentioning

confidence: 99%

Novel human sex-typing strategies based on the autism candidate gene NLGN4X and its male-specific gametologue NLGN4Y

2019

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BackgroundSince the early days of PCR techniques, sex identification, “sex-typing,” of genomic DNA samples has been a fundamental part of human forensic analysis but also in animal genetics aiming at strategic livestock breeding. Most analyses are employing the AMELX/AMELY gene loci on the X and Y chromosomes present in most mammals. We hypothesize that sex-typing in humans is also possible based on the genes NLGN4X and NLGN4Y, which represent X and Y chromosome-specific copies of a common ancestral neuroligin-4 orthologue.MethodsGenomic DNA was isolated from human blood and buccal cell samples (total n = 111) and submitted to two different strategies: (a) a traditional two-primer PCR approach detecting an insertion/deletion (indel) polymorphism immediately upstream of the translational start on exon 1 and (b) detection of a single nucleotide polymorphism, SNP, on the translational stop carrying exon 7. The SNP detection was based on a quantitative PCR approach (rhAMP genotyping) employing DNA/RNA hybrid oligonucleotides that were blocked and which could only be activated upon perfect annealing to the target DNA sequence.ResultsAll indel PCR-tested human DNA samples showed two bands for males representing X- and Y-specific copies of NLGN4 and a single band for female samples, i.e., homozygosity of NLGN4X and absence of NLGN4Y, in accordance with the self-reported sex of the donors. These results were in perfect agreement with the results of the rhAMP-based SNP-detection method: all males were consequently positive for both alleles, representing either SNP variant, and females were interpreted as homozygous regarding the SNP variant found in NLGN4X. Both methods have shown reliable and consistent results that enabled us to infer the sex of donor DNA samples across different ethnicities.ConclusionsThese results indicate that the detection of human NLGN4X/Y is a suitable alternative to previously reported methods employing gene loci such as AMELX/Y. Furthermore, this is the first report applying successfully the rhAMP-genotyping strategy as a means for SNP-based sex-typing, which consequently will be applicable to other gene loci or different species as well.

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“…Mosaic sex chromosome aneuploidies are common in humans and have a plethora of phenotypic outcomes in addition to gonosomal (sex chromosome) syndromes (i.e., Turner syndrome, Triple X syndrome, Klinefelter syndrome etc.) [131]. As mentioned before, Turner syndrome, which is associated with a variety of chromosome X imbalances leading to a loss of the critical X chromosome regions (for review, see [132]), is likely to result from cryptic or tissue-specific mosaic monosomy [83].…”

Section: Mosaic Chromosome Abnormalitiesmentioning

confidence: 99%

Ontogenetic and Pathogenetic Views on Somatic Chromosomal Mosaicism

Iourov

Vorsanova

Yurov

et al. 2019

Genes

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Intercellular karyotypic variability has been a focus of genetic research for more than 50 years. It has been repeatedly shown that chromosome heterogeneity manifesting as chromosomal mosaicism is associated with a variety of human diseases. Due to the ability of changing dynamically throughout the ontogeny, chromosomal mosaicism may mediate genome/chromosome instability and intercellular diversity in health and disease in a bottleneck fashion. However, the ubiquity of negligibly small populations of cells with abnormal karyotypes results in difficulties of the interpretation and detection, which may be nonetheless solved by post-genomic cytogenomic technologies. In the post-genomic era, it has become possible to uncover molecular and cellular pathways to genome/chromosome instability (chromosomal mosaicism or heterogeneity) using advanced whole-genome scanning technologies and bioinformatic tools. Furthermore, the opportunities to determine the effect of chromosomal abnormalities on the cellular phenotype seem to be useful for uncovering the intrinsic consequences of chromosomal mosaicism. Accordingly, a post-genomic review of chromosomal mosaicism in the ontogenetic and pathogenetic contexts appears to be required. Here, we review chromosomal mosaicism in its widest sense and discuss further directions of cyto(post)genomic research dedicated to chromosomal heterogeneity.

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Sex chromosome aneuploidies

Cited by 62 publications

References 145 publications

The Correlation Between Maternal Age and Fetal Sex Chromosome Aneuploidies: A 8-Year Single Institution Experience in China

The Correlation Between Maternal Age and Fetal Sex Chromosome Aneuploidies: A 8-Year Single Institution Experience in China

Novel human sex-typing strategies based on the autism candidate gene NLGN4X and its male-specific gametologue NLGN4Y

Ontogenetic and Pathogenetic Views on Somatic Chromosomal Mosaicism

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