Open AccessA case of mosaic Klinefelter syndrome associated with isodicentric Yp
Author(s) -
TOMOMASA HIROSHI,
OGAWA KAZUE,
NAGASAWA JOJI,
SATOH SATOSHI,
MURAMATSU HIROSHI,
IIYAMA TETSURO,
OKADA HIROSHI
Publication year - 2008
Publication title -
reproductive medicine and biology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.005
H-Index - 22
eISSN - 1447-0578
pISSN - 1445-5781
DOI - 10.1111/j.1447-0578.2008.00216.x
Subject(s) - klinefelter syndrome , mosaic , medicine , gynecology , reproductive medicine , pregnancy , genetics , biology , archaeology , history
We describe a case of mosaic Klinefelter syndrome demonstrating an isodicentric Y chromosome. A 70‐year‐old man visited our outpatient clinic complaining of dysuria resulting from atrophy of the penis. His height was 170 cm and his weight was 60 kg. A serum hormonal analysis revealed hypergonadotropic hypogonadism. A chromosomal analysis with fluorescence in situ hybridization revealed four cell lines in which the karyotypes were 47,XXY, 46,XY, 46,XX and 47,XX,idic(Y) (q11.2). To the best of our knowledge this is the first case of mosaic Klinefelter syndrome bearing an isodicentric Y chromosome. The origin of the isodicentric Y is discussed. (Reprod Med Biol 2008; 7 : 177–180)