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Klinefelter's syndrome with the XXYY sex chromosome complex

1964; Elsevier BV; Volume: 65; Issue: 2 Linguagem: Inglês

10.1016/s0022-3476(64)80524-2

1097-6833

Geoffrey C. Robinson, James R. Miller, F. J. Dill, Toni D. Kamburoff,

Congenital limb and hand anomalies

The most common chromosomal complement in Klinefelter's syndrome is 47 with the XXY sex chromosome complex. Although mental retardation may be recognized early in life, it is difficult to establish a clinical diagnosis of Klinefelter's syndrome before puberty when the small testes, gynecomastia, and other physical stigmata may become apparent. This paper describes two examples of Klinefelter's syndrome with the XXYY sex chromosome complex, in one of which skeletal abnormalities led to chromosomal studies and the prepubertal diagnosis. In addition it is suggested that dermatoglyphic studies may provide a further diagnostic aid in the early recognition of these cases. The most common chromosomal complement in Klinefelter's syndrome is 47 with the XXY sex chromosome complex. Although mental retardation may be recognized early in life, it is difficult to establish a clinical diagnosis of Klinefelter's syndrome before puberty when the small testes, gynecomastia, and other physical stigmata may become apparent. This paper describes two examples of Klinefelter's syndrome with the XXYY sex chromosome complex, in one of which skeletal abnormalities led to chromosomal studies and the prepubertal diagnosis. In addition it is suggested that dermatoglyphic studies may provide a further diagnostic aid in the early recognition of these cases.