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November 1963

XXXXY Sex-Chromosome Abnormality

Author Affiliations

John P. Connelly, MD, Department of Pediatrics, Harvard Medical School, Massachusetts General Hospital, Boston 14, Mass.; Assistant Pathologist, Massachusetts General Hospital, Clinical Associate in Pathology, Harvard Medical School (Dr. Atkins), and Assistant Pediatrician, Massachusetts General Hospital, Instructor in Pediatrics, Harvard Medical School (Dr. Connelly).; From the Departments of Pathology and Pediatrics, Harvard Medical School, and the James Homer Wright Pathology Laboratories and Children's Service of the Massachusetts General Hospital.

Am J Dis Child. 1963;106(5):514-519. doi:10.1001/archpedi.1963.02080050516022

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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