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

页码：208 / 210

页数：3

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