The Y chromosome
The crucial role of Y chromosome genes in male gonadal determination and reproductive fitness has been recognized for decades. Y chromosome microdeletions are the most common molecular genetic causes of azoospermia and severe spermatogenic impairment. Since the late 1990s, screening for these microd...
| Autores: | , |
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| Tipo de recurso: | artículo |
| Fecha de publicación: | 2025 |
| País: | España |
| Institución: | Universitat Autònoma de Barcelona |
| Repositorio: | Dipòsit Digital de Documents de la UAB |
| Idioma: | inglés |
| OAI Identifier: | oai:ddd.uab.cat:322768 |
| Acceso en línea: | https://ddd.uab.cat/record/322768 https://dx.doi.org/urn:doi:10.1016/j.fertnstert.2025.03.006 |
| Access Level: | acceso abierto |
| Palabra clave: | AZF deletion Y chromosome azoospermia Genetics Male infertility |
| Sumario: | The crucial role of Y chromosome genes in male gonadal determination and reproductive fitness has been recognized for decades. Y chromosome microdeletions are the most common molecular genetic causes of azoospermia and severe spermatogenic impairment. Since the late 1990s, screening for these microdeletions has become a routine part of the diagnostic work-up of severe male factor infertility. In this article, we provide a concise overview of the Y chromosome's structure and gene content. We describe its clinically relevant alterations, detectable through karyotyping or molecular genetic tools, with a focus on their phenotypic impact and significance for genetic counseling. Finally, we discuss the broader implications of Y chromosome variations on health conditions beyond male infertility. |
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