A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation

While the XYY and XXYY syndromes have been several time described in patients, the combination of both syndromes in an individual is a rare event and may result in a severe phenotype. In the present observation, a boy with congenital scoliosis due to segmented thoracic hemivertebra associated with r...

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Autores principales: Mutesa, Leon, Jamar, Mauricette, Hellin, Anne Cecile, Pierquin, Genevieve, Bours, Vincent
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656528/
https://www.ncbi.nlm.nih.gov/pubmed/23716947
http://dx.doi.org/10.4103/0971-6866.108033
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author Mutesa, Leon
Jamar, Mauricette
Hellin, Anne Cecile
Pierquin, Genevieve
Bours, Vincent
author_facet Mutesa, Leon
Jamar, Mauricette
Hellin, Anne Cecile
Pierquin, Genevieve
Bours, Vincent
author_sort Mutesa, Leon
collection PubMed
description While the XYY and XXYY syndromes have been several time described in patients, the combination of both syndromes in an individual is a rare event and may result in a severe phenotype. In the present observation, a boy with congenital scoliosis due to segmented thoracic hemivertebra associated with radioulnar synostosis and congenital heart disease is described. Chromosome G-banding and FISH analysis demonstrated a de novo mosaic karyotype 48, XXYY/47, XYY in this patient. To the best of our knowledge, this is the first report of a combination of XYY and XXYY syndromes.
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spelling pubmed-36565282013-05-28 A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation Mutesa, Leon Jamar, Mauricette Hellin, Anne Cecile Pierquin, Genevieve Bours, Vincent Indian J Hum Genet Case Report While the XYY and XXYY syndromes have been several time described in patients, the combination of both syndromes in an individual is a rare event and may result in a severe phenotype. In the present observation, a boy with congenital scoliosis due to segmented thoracic hemivertebra associated with radioulnar synostosis and congenital heart disease is described. Chromosome G-banding and FISH analysis demonstrated a de novo mosaic karyotype 48, XXYY/47, XYY in this patient. To the best of our knowledge, this is the first report of a combination of XYY and XXYY syndromes. Medknow Publications & Media Pvt Ltd 2012 /pmc/articles/PMC3656528/ /pubmed/23716947 http://dx.doi.org/10.4103/0971-6866.108033 Text en Copyright: © Indian Journal of Human Genetics http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Mutesa, Leon
Jamar, Mauricette
Hellin, Anne Cecile
Pierquin, Genevieve
Bours, Vincent
A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation
title A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation
title_full A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation
title_fullStr A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation
title_full_unstemmed A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation
title_short A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation
title_sort new 48, xxyy/47, xyy syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656528/
https://www.ncbi.nlm.nih.gov/pubmed/23716947
http://dx.doi.org/10.4103/0971-6866.108033
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