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What is 49, XXXXY Syndrome

Tags: health, syndrome, xxxxy syndrome
Asked by Joseph Chacko, 04 Dec '10 08:37 pm
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Answers (2)


49, XXXXY syndrome is a rare sex chromosomal disorder. A 5-month-old boy had failure
to thrive and multiple congenital anomalies including microcephaly, facial dysmorphism
(hypertelorism, megacornea, cleft palate, and micrognathia), obvious heart murmur, umbilical
hernia, microphallus, and mild clenched hands. Chromosomal studies via techniques of
G-banding and fluorescence in situ hybridization showed the constitution to be 47, XXXXY
in all cells. Ventriculomegaly and congenital cardiac defects (patent ductus arteriosus, atrial
septal defect, and peripheral pulmonary stenosis) were noted. He has severe atopic dermatitis
with high IgE levels and psychomotor retardation. After heart surgery and nutritional
support, he has better growth and the rehabilitation program is continuing.The 49, XXXXY syndrome was first reported in1960 by Fraccaro et al. This rare sex chromosomal aneuploidy syndrome has an approximate incidence of 1 in 85000 male births. Over 100 cases of 49, XXXXY synd ...more
Answered by Josna, 05 Dec '10 11:21 am

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49, XXXXY Syndrome is a very rare sex chromosome abnormality with an approximate incidence of 1 in 85,000 male births. Sometimes, 49, XXXXY Syndrome is referred to as a variant of Klinefelter Syndrome. Klinefelter Syndrome is a sex chromosome abnormality in which boys have an extra X chromosome and therefore have 47, XXY. Today, most people distinguish Klinefelter Syndrome from 49, XXXXY Syndrome and other sex chromosome abnormalities because the clinical features can be very different.
Answered by jakir hussain, 04 Dec '10 08:40 pm

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