Article
Genitourinary phenotype in XX patients with distal 9p monosomy.
Molecular genetics and metabolism - 1 Jun 2004
Fujimoto Yoko, Okuyama Torayuki, Iijima Makoto, Tanaka Toshiaki, Horikawa Reiko, Yamada Koichiro, Ogata Tsutomu
Abstract excerpt
Although testicular development has been shown to be variably impaired in XY patients with distal 9p monosomy, ovarian and other genitourinary phenotype has poorly been studied in XX patients monosomic for the distal 9p region. Thus, we studied a 13-month-old infant with 46,XX,der(9)t(9;10)(p23;p13) (case 1) and an 11-year-old girl with 46,XX,der(9)t(9;16)(p23;q22) (case 2). Case 1 had primary hypogonadism (basal...
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