A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation
نویسندگان
چکیده
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.
منابع مشابه
XYY syndrome, and XYY-XXYY mosaicism also showing features of Klinefelter's syndrome.
Both the 48,XXYY and the 47,XYY chromosome anomalies are now well-recognized conditions following the first reports by Muldal and Ockey (1960) of the XXYY genotype, and Sandberg et al. (1961) who described an XYY male. This paper presents the findings in 2 patients with 47,XYY/48,XXYY mosaicism, and one patient with the 47,XYY anomaly, discovered among 250 men in a comprehensive hospital for th...
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