A male with XXYY chromosomes

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Abstract
Summary: In a survey of mentally retarded males with small testes, a man was found whose sex chromosome complement has been interpreted as XXYY. The family history gave no indication as to the origin of the anomaly and various possibilities are discussed. Non‐disjunction of the Y‐chromosomes at the second meiotic division in spermatogenesis combined with some other accident producing two X‐chromosomes in sperm or ovum is postulated. Clinical and pathological investigation revealed a number of physical peculiarities, including absence of most of the left epididymis associated with testicular atrophy. His stature is 6 ft. 5 in.The writers are indebted to many people who have helped them at different points in this investigation. They would like to take this opportunity of thanking Dr D. H. H. Thomas for granting facilities, Mr D. S. Morgan‐Jones for obtaining biopsy material, Drs J. Munro Sherriff and I. F. Sommerville for ketosteroid and other endocrine estimations, Miss M. Mann for preparing histological sections, Dr Sarah B. Holt for examining the finger ridge patterns, Miss B. J. Warland for obtaining the family history and Mr C. Payling Wright and Mr N. Bishun for technical assistance.