A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation.
Indian J Hum Genet
;
2012 Sept; 18(3): 352-355
Artigo
em Inglês
| IMSEAR
| ID: sea-145861
ABSTRACT
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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Índice:
IMSEAR (Sudeste Asiático)
Idioma:
Inglês
Revista:
Indian J Hum Genet
Ano de publicação:
2012
Tipo de documento:
Artigo
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