Case Reports
Short Stature, Type E Brachydactyly, Exostoses, Gynecomastia, and Cryptorchidism in a Patient with 47,XYY/45,X/46,XY Mosaicism

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ABSTRACT

We report a 72-year-old male patient with a 47,XYY/45,X/46,XY mosaicism associated with short stature, exostoses, type E brachydactyly, gynecomastia, cryptorchidism, mild mental retardation, and a paranoid personality and conversion disorder. Since his prevalent cell line was 47,XYY (about 75%), our patient could be karyotypically classified as a case of 47,XYY syndrome. In view of the striking similarity of the clinical features of this case and those of a XYY case previously reported by Ikegawa et al (1992), it seems reasonable to suggest that these patients are representatives of a novel syndrome with a XYY karyotype.

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Case Report

A 72-year-old man was admitted to the Department of Dermatology, University of Patras with an acute relapse of his chronic plaque psoriasis. He was the only product of the first and uncomplicated pregnancy of unrelated parents. He was born by vaginal delivery at term; data on birth weight and body length at birth were unavailable. The paternal and maternal ages at birth were 23 years and 18 years, respectively. The patient's short stature and brachydactyly became evident in the first years of

Discussion

We report a 47,XYY/45,X/46,XY mosaicism with 47,XYY being the prevalent cell line and 45,X cells restricted to a very low percentage. It is possible for such a mosaic to arise as a consequence of various genetic changes resulting in the formation of aneuploid cells. A nondisjunction of chromosome Y at the second meiotic division of the paternal germ cells followed by loss of the same chromosome in somatic cells could result in this mosaic. In addition, mitotic nondisjunction in the early

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