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XXXXY Sex-Chromosome Abnormality

LEONARD ATKINS, MD; JOHN P. CONNELLY, MD
Am J Dis Child. 1963;106(5):514-519. doi:10.1001/archpedi.1963.02080050516022.
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At least nine males with an XXXXY sexchromosome constitution have been described.1-9 One of these, a nine-year-old boy described by Anders and co-workers,3 had bone marrow cells that contained three to five X chromosomes with most cells containing four X chromosomes. Another case in this group, not reported in detail, was an XXXXY/XXXY mosaic found in a large survey of mental institutions by Maclean et al.6 Skeletal and genital anomalies as well as mental deficiency were common to all the fully reported cases with ages ranging from three months to 21 years. Other abnormalities that were inconstantly found included strabismus, congenital heart disease, microcephaly, short stature, cleft palate, and hypertelorism. Testicular biopsy specimens obtained from five of the patients showed a connective tissue stroma with a few hypoplastic seminiferous tubules and no germ cells. A biopsy specimen obtained from the 7½-month-old boy reported by Barr et al

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