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Distinct mechanism of formation of the 48, XXYY karyotype

BACKGROUND: To expose the unusual nature of a coincident sex chromosomal aneuploidy in a patient and his father. Molecular mechanisms involved probably are based on the sperm chromosome of paternal origin, which determine the mode of formation. Conventional cytogenetics techniques and multiple Quant...

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Autores principales: Balsera, Aránzazu Margallo, Estévez, Manuela Núñez, Beltrán, Emilia Balboa, Sánchez-Giralt, Plácida, García, Luz González, Moreno, Trinidad Herrera, García de Cáceres, Mayte, Carbonell Pérez, José M, Gómez, Enrique Galán, Rodríguez-López, Raquel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3734011/
https://www.ncbi.nlm.nih.gov/pubmed/23822881
http://dx.doi.org/10.1186/1755-8166-6-25
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author Balsera, Aránzazu Margallo
Estévez, Manuela Núñez
Beltrán, Emilia Balboa
Sánchez-Giralt, Plácida
García, Luz González
Moreno, Trinidad Herrera
García de Cáceres, Mayte
Carbonell Pérez, José M
Gómez, Enrique Galán
Rodríguez-López, Raquel
author_facet Balsera, Aránzazu Margallo
Estévez, Manuela Núñez
Beltrán, Emilia Balboa
Sánchez-Giralt, Plácida
García, Luz González
Moreno, Trinidad Herrera
García de Cáceres, Mayte
Carbonell Pérez, José M
Gómez, Enrique Galán
Rodríguez-López, Raquel
author_sort Balsera, Aránzazu Margallo
collection PubMed
description BACKGROUND: To expose the unusual nature of a coincident sex chromosomal aneuploidy in a patient and his father. Molecular mechanisms involved probably are based on the sperm chromosome of paternal origin, which determine the mode of formation. Conventional cytogenetics techniques and multiple Quantitative Fluorescent PCR of STR markers in sexual chromosomes in the patient and his parents. RESULTS: 48,XXYY and 47,XYY aneuploidies in the patient and his father, respectively, were identified. The additional X and Y chromosomes showed parental origin. CONCLUSIONS: An infrequent origin of the 48,XXYY syndrome was demonstrated. Mostly, it is thought to result from an aneuploid sperm produced through two consecutive non disjunction events in both meiosis I and II in a chromosomally normal father, but in our father’s patient a 47,XYY was discovered. It is suggested that a higher incidence of 24,XY and 24,YY sperm may be possible in 47,XYY individuals andan increased risk for aneuploidy pregnancies may exist. Although 48,XXYY patients and Klinefelter syndrome are often compared, recently they are regarded as a distinct genetic and clinical entity.
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spelling pubmed-37340112013-08-06 Distinct mechanism of formation of the 48, XXYY karyotype Balsera, Aránzazu Margallo Estévez, Manuela Núñez Beltrán, Emilia Balboa Sánchez-Giralt, Plácida García, Luz González Moreno, Trinidad Herrera García de Cáceres, Mayte Carbonell Pérez, José M Gómez, Enrique Galán Rodríguez-López, Raquel Mol Cytogenet Case Report BACKGROUND: To expose the unusual nature of a coincident sex chromosomal aneuploidy in a patient and his father. Molecular mechanisms involved probably are based on the sperm chromosome of paternal origin, which determine the mode of formation. Conventional cytogenetics techniques and multiple Quantitative Fluorescent PCR of STR markers in sexual chromosomes in the patient and his parents. RESULTS: 48,XXYY and 47,XYY aneuploidies in the patient and his father, respectively, were identified. The additional X and Y chromosomes showed parental origin. CONCLUSIONS: An infrequent origin of the 48,XXYY syndrome was demonstrated. Mostly, it is thought to result from an aneuploid sperm produced through two consecutive non disjunction events in both meiosis I and II in a chromosomally normal father, but in our father’s patient a 47,XYY was discovered. It is suggested that a higher incidence of 24,XY and 24,YY sperm may be possible in 47,XYY individuals andan increased risk for aneuploidy pregnancies may exist. Although 48,XXYY patients and Klinefelter syndrome are often compared, recently they are regarded as a distinct genetic and clinical entity. BioMed Central 2013-07-03 /pmc/articles/PMC3734011/ /pubmed/23822881 http://dx.doi.org/10.1186/1755-8166-6-25 Text en Copyright © 2013 Balsera et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Balsera, Aránzazu Margallo
Estévez, Manuela Núñez
Beltrán, Emilia Balboa
Sánchez-Giralt, Plácida
García, Luz González
Moreno, Trinidad Herrera
García de Cáceres, Mayte
Carbonell Pérez, José M
Gómez, Enrique Galán
Rodríguez-López, Raquel
Distinct mechanism of formation of the 48, XXYY karyotype
title Distinct mechanism of formation of the 48, XXYY karyotype
title_full Distinct mechanism of formation of the 48, XXYY karyotype
title_fullStr Distinct mechanism of formation of the 48, XXYY karyotype
title_full_unstemmed Distinct mechanism of formation of the 48, XXYY karyotype
title_short Distinct mechanism of formation of the 48, XXYY karyotype
title_sort distinct mechanism of formation of the 48, xxyy karyotype
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3734011/
https://www.ncbi.nlm.nih.gov/pubmed/23822881
http://dx.doi.org/10.1186/1755-8166-6-25
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