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

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dc.contributor.authorMutesa, Leon
dc.contributor.authorJamar, Mauricette
dc.contributor.authorHellin, Anne Cecile
dc.contributor.authorPierquin, Genevieve
dc.contributor.authorBours, Vincent
dc.date.accessioned2013-04-02T09:02:50Z
dc.date.available2013-04-02T09:02:50Z
dc.date.issued2012-09
dc.description.abstractWhile 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.en_US
dc.identifier.citationMutesa 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. Indian Journal of Human Genetics. 2012 Sept; 18(3): 352-355.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/145861
dc.language.isoenen_US
dc.source.urihttps://www.ijhg.com/article.asp?issn=0971-6866;year=2012;volume=18;issue=3;spage=352;epage=355;aulast=Mutesaen_US
dc.subject48en_US
dc.subjectXXYY/47en_US
dc.subjectXYY syndromeen_US
dc.subjectcongenital heart diseaseen_US
dc.subjectmultiple skeletal abnormalitiesen_US
dc.titleA new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation.en_US
dc.typeArticleen_US
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