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Genetic Counseling in Assisted Reproductive Technology
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
The 47,XYY syndrome, also known as Jacobs syndrome, is found in 0.1% of the general male population. Most men with 47,XYY are usually fertile (Nussbaum et al., 2004). In the literature, variable meiotic behavior is described among 47,XYY men. Whereas some investigators report no increased incidence of aneuploidy in sperm, others have described a very small but significant increase of diploidy or an increase in both sex chromosome aneuploidy and diploidy (Gardner and Amor, 2018; Rodrigo et al., 2010). Wong et al. (2008) studied germ cells and sperm from a 47,XYY infertile patient, showing the presence of mosaic pachytene cells 46XY/47,XYY leading to an increase in sex and autosome disomy. No discernibly increased risk of having chromosomally abnormal children has been documented (Gardner and Amor, 2018; Nussbaum et al., 2004).
Genetic Causes of Male Infertility
Published in Botros Rizk, Ashok Agarwal, Edmund S. Sabanegh, Male Infertility in Reproductive Medicine, 2019
Amr Abdel Raheem, Mohamed Wael Ragab, Tarek M. A. Aly
47, XYY syndrome is characterized by the presence of an extra Y chromosome and is estimated to present in around 1/1,000 newborn males. However, up to 85% of XYY males are undiagnosed [26]. The common presentations of XYY syndrome include macrocephaly, macro-orchidism, hypotonia, tall stature, and autistic spectrum disorders [27]. Generally, men with XYY syndrome are fertile. There are divergent data on the link between XYY syndrome and increased sperm sex chromosome aneuploidy [28].
The Application of Genetic Tests in an Assisted Reproduction Unit: Sperm FISH
Published in Nicolás Garrido, Rocio Rivera, A Practical Guide to Sperm Analysis, 2017
About 5.8% oligozoospermic or azoospermic men are carriers of numerical or structural chromosome abnormalities affecting the spermatogenesis.50 Infertile men with Klinefelter or 47,XYY syndrome are at risk of low sperm production with poor sperm quality and abnormal chromosome constitution.24,51–53 In these men, incidences of 1%–20% of spermatozoa with aneuploidies for the sex chromosomes and 1% of diploid sperm have been described.54
Clinical aspects of infertile 47,XYY patients: a retrospective study
Published in Human Fertility, 2019
Parnaz Borjian Boroujeni, Marjan Sabbaghian, Ahmad Vosough Dizaji, Shabnam Zarei Moradi, Navid Almadani, Faranak Mohammadpour Lashkari, Mohamad Reza Zamanian, Anahita Mohseni Meybodi
Generally, 47,XYY syndrome is not a hereditary anomaly but usually occurs as a random mistake in chromosome segregation during spermatogenesis and results in the production of sperm with an extra copy of the Y chromosome which could lead to a child from a father with 47,XYY having an extra Y chromosome in all cells of his body. In some cases, adding the extra Y chromosome is due to non-disjunction in cell division during post-zygotic mitosis in the early development of the foetus and produces the mosaic karyotype 46,XY/47,XYY (Robinson & Jacobs, 1999).