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

by Mutesa, Leon , Hellin, Anne , Bours, Vincent , Pierquin, Genevieve , Jamar, Mauricette

in Abnormalities / Bones / Cardiovascular disease / Case Report / Case studies / Complications and side effects / Congenital heart disease / Deformities / Diagnosis / Genetic aspects / Genetic disorders / Genetics & genetic processes / Génétique & processus génétiques / Life sciences / Males / Mental retardation / multiple skeletal abnormalities / Physiological aspects / Risk factors / Sciences du vivant / Sex chromosome abnormalities / XXYY/47 / XYY syndrome

2012

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

by Mutesa, Leon , Hellin, Anne , Bours, Vincent , Pierquin, Genevieve , Jamar, Mauricette

2012

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

by Mutesa, Leon , Hellin, Anne , Bours, Vincent , Pierquin, Genevieve , Jamar, Mauricette

2012

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Journal Article

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

Mutesa, Leon,

Hellin, Anne,

Bours, Vincent,

Pierquin, Genevieve,

Jamar, Mauricette

2012

Overview

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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Publisher

Medknow Publications,Medknow Publications and Media Pvt. Ltd,Medknow Publications & Media Pvt. Ltd,Medknow Publications & Media Pvt Ltd

Subject

Abnormalities

/ Bones

/ Cardiovascular disease

/ Case Report

/ Case studies

/ Complications and side effects

/ Congenital heart disease