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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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Detalles Bibliográficos
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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