PEDIATRICS Vol. 41 No. 5 May 1968, pp. 984-988
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XY/XYY MOSAICISM IN A PREPUBERTAL BOY WITH TALL STATURE, PROGNATHISM, AND MALFORMATIONS OF THE HANDS

Tadashi Kajii M.D.1, Richard L. Neu M.S.1, and Lytt I. Gardner M.D.1

1 Genetic and Endocrine Unit, Department of Pediatrics, State University of New York, Upstate Medical Center, Syracuse, New York

A 10-year-old boy with learning difficulties, tall stature, prognathism, malformations of the hands, and abnormal dermatoglyphics is reported. Chromosomal analyses revealed an XY/XYY mosaicism with 3.5% XY and 92% XYY cells. Labelling studies of the chromosomes revealed that the two Y chromosomes in the XYY cell line replicate similarly and later than the other members of the C group. This appears to be the first described case of XY/XYY mosaicism.

Submitted on September 12, 1967
Accepted on November 23, 1967


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