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Salud, Ciencia y Tecnología Metaverse Basic and Applied Research Data & Metadata Interdisciplinary Rehabilitation Salud, Ciencia y Tecnología - Serie de Conferencias Community and Interculturality in Dialogue Seminars in Medical Writing and Education Health Leadership and Quality of Life Gamification and Augmented Reality Southern perspective / Perspectiva austral
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Published: 2023-05-08
DOI: https://doi.org/10.56294/sctconf2023339

Unusual gain in 9qh and its possible influence on reproductive disorders. A case report

By
Yomisleydis Bravo Álvarez ,
Yomisleydis Bravo Álvarez

Centro Nacional de Genética Médica. La Habana, Cuba

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Anduriña Barrios Martínez ,
Anduriña Barrios Martínez

Centro Nacional de Genética Médica. La Habana, Cuba

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Enny Morales Rodríguez ,
Enny Morales Rodríguez

Centro Nacional de Genética Médica. La Habana, Cuba

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Estela Morales-Peralta ,
Estela Morales-Peralta

Centro Nacional de Genética Médica. La Habana, Cuba

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Niurka González Domínguez ,
Niurka González Domínguez

Hospital González Coro. La Habana, Cuba

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Luis Alberto Méndez-Rosado ,
Luis Alberto Méndez-Rosado

Centro Nacional de Genética Médica. La Habana, Cuba

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Abstract

Reproductive disorders are of heterogeneous cause. Balanced chromosomal aberrations and chromosomal polymorphisms in carrier individuals are described among the most reported genetic causes. The aim of this work was to describe the unusual finding of a gain in the heterochromatic region of chromosome 9, coupled with two bands of apparent euchromatin in this region in a man with a history of several years of infertility. This is a 36-year-old male patient, who has been unable to procreate for 10 years, presenting oligoasthenospermia without other alterations in his clinical study. Through the conventional chromosomal study in peripheral blood, a karyotype with 46,XY, 9qh++ was obtained. The increased heterochromatic region found on one of her chromosome 9 is interpreted as an apparent duplication, with two bands of apparent euchromatin inserted into it. The unusual variation observed in this patient's chromosome 9 suggests that it is the cause of the reproductive disorder he presents with.

Keywords:

heterochromatin,
chromosome 9,
gain,
reproductive disorders,

How to Cite

1.
Bravo Álvarez Y, Barrios Martínez A, Morales Rodríguez E, Morales-Peralta E, González Domínguez N, Méndez-Rosado LA. Unusual gain in 9qh and its possible influence on reproductive disorders. A case report. Salud, Ciencia y Tecnología - Serie de Conferencias [Internet]. 2023 May 8 [cited 2024 Jul. 8];2:339. Available from: https://conferencias.saludcyt.ar/index.php/sctconf/article/view/339

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The article is distributed under the Creative Commons Attribution 4.0 License. Unless otherwise stated, associated published material is distributed under the same licence.

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IV Jornadas de Fundamentos y Aplicaciones de la Interdisciplina (JFAI2023)
Vol. 2 (2023)
See full issue

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