Short stature, type E brachydactyly, exostoses, gynecomastia, and cryptorchidism in a patient with 47,XYY/45,X/46,XY mosaicism

被引：5
|
作者：
Monastirli, A
Stephanou, G
Georgiou, S
Andrianopoulos, C
Pasmatzi, E
Chroni, E
Katrivanou, A
Dimopoulos, P
Demopoulos, NA
Tsambaos, D
机构：
[1] Univ Patras, Dept Dermatol, Sch Med, 26504 Patras, Greece
[2] Univ Patras, Dept Neurol, 26504 Patras, Greece
[3] Univ Patras, Dept Psychiat, 26504 Patras, Greece
[4] Univ Patras, Dept Radiol, 26504 Patras, Greece
[5] Univ Patras, Div Genet Cell & Dev Biol, 26504 Patras, Greece
来源：
AMERICAN JOURNAL OF THE MEDICAL SCIENCES | 2005年 / 329卷 / 04期
关键词：
short stature; cryptorchidism; exostoses; gynecomastia; XYY;
D O I：
10.1097/00000441-200504000-00008
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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.
引用
收藏
页码：208 / 210
页数：3
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