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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
XYY syndrome is not phenotypically recognizable at birth. Affected individuals have normal intelligence but may have an increased risk of learning disabilities and behavioral problems. Adults may appear taller than average, and fertility is expected to be normal. Early reports that the condition is associated with aggression or psychopathological behavior have been discounted as being due to ascertainment bias.
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).