Sex Chromosome Aneuploidies

Demaliaj, Eliona; Cerekja, Albana; Piazze, Juan

doi:10.5772/34426

Cited by 4 publications

(2 citation statements)

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“…Klinefelter syndrome (KS), characterized by an XXY karyotype (60), is the most common sex chromosome aneuploidy found in males, affecting 1 in 500 births (61). KS patients present with enlarged breasts, minimal body hair, small testes, and often have language deficits (60,62). Mosaic KS patients are very difficult to diagnose clinically as their phenotype ranges from normal intelligence to mental retardation as well as fertile to complete infertility, a clinical indication that would not be tested until adulthood.…”

Section: Milder Phenotype In Chromosomal Syndromesmentioning

confidence: 99%

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Detecting somatic mosaicism: considerations and clinical implications

et al. 2014

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Human disease is rarely a matter of all or nothing; variable expressivity is generally observed. Part of this variability is explained by somatic mosaicism, which can arise by a myriad of genetic alterations. These can take place at any stage of development, possibly leading to unusual features visible at birth, but can also occur later in life, conceivably leading to cancer. Previously, detection of somatic mosaicism was extremely challenging, as many gold standard tests lacked the necessary resolution. However, with the advances in high-throughput sequencing, mosaicism is being detected more frequently and at lower levels. This raises the issue of normal variation within each individual vs mosaicism leading to disease, and how to distinguish between the two. In this article, we will define somatic mosaicism with a brief overview of its main mechanisms in concrete clinical examples, discuss the impact of next-generation sequencing technologies in its detection, and expand on the clinical implications associated with a discovery of somatic mosaicism in the clinic.

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Section: Milder Phenotype In Chromosomal Syndromesmentioning

confidence: 99%

“…Individuals with TS are typically short in stature and often fail to mature reproductively. TS has been described with karyotypes such as 45X, 45X/46XX, and 45X/47XXX (62,63). It is important to note that some TS patients may carry a Y chromosome, which results in mosaic 45X/46XY or 45X/46XX/46XY karyotypes.…”

Section: Milder Phenotype In Chromosomal Syndromesmentioning

confidence: 99%

Detecting somatic mosaicism: considerations and clinical implications

et al. 2014

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Increased Frequency of Aneuploidy in Long-Lived Spermatozoa

et al. 2014

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Aneuploidy commonly causes spontaneous abortions, stillbirths, and aneuploid births in humans. Notably, the majority of sex chromosome aneuploidies in live births have a paternal origin. An increased frequency of aneuploidy is also associated with male infertility. However, the dynamics and behavior of aneuploid spermatozoa during fertilization in humans have not been studied in detail. Therefore, we compared the frequency of aneuploidy and euploidy in live spermatozoa from normozoospermic men over a 3-day period. To assess the dynamics and behavior of aneuploid spermatozoa, we simultaneously evaluated sperm viability using the hypo-osmotic swelling test and sperm aneuploidy using fluorescence in situ hybridization. Whereas the frequency of viable euploid spermatozoa significantly decreased over 3 days, the frequency of viable spermatozoa with aneuploidy interestingly showed a time-dependent increase. In addition, spermatozoa with abnormal sex chromosomes survived longer. To compared with spermatozoa with other swelling patterns, those with tail-tip swelling patterns had a lower frequency of aneuploidy at all time points. This study revealed the novel finding that the frequency of aneuploid spermatozoa with fertilization capability significantly increased compared to that of euploid spermatozoa over 3 days, suggesting that aneuploid spermatozoa can survive longer than euploid spermatozoa and have a greater chance of fertilizing oocytes.

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