True hermaphroditism with 46,X,+22p/46,XY and gonadal mosaicism detected by fluorescence in situ hybridization.
A Japanese girl was diagnosed as true hermaphroditism with 46,X,+mar/46,XY and the marker chromosome was determined on the short arm of chromosome 22 without alpha-satellite by fluorescence in situ hybridization (FISH) and spectral karyotyping (SKY) methods. At birth, she showed intersexual external genitalia, urethral-vaginal fistula and right inguinal hernia. The right gonad was revealed as an ovotestis, and the left was as an undifferentiated testis. The gonadal mosaicism was demonstrated directly in gonadal tissue by interphase FISH.
Takano
Takako
T
Department of Hygiene and Public Health, Teikyo University School of Medicine, 2-11-1 Kaga, Itabashi-ku, 173-8605, Tokyo, Japan. takako@med.teikyo-u.ac.jp <takako@med.teikyo-u.ac.jp>
Yamanouchi
Yasuko
Y
Tanaka
Fumihiko
F
D002675:Child, Preschool; D002892:Chromosomes, Human, Pair 22; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D006060:Gonadal Dysgenesis, Mixed / Q000235:genetics*; D006066:Gonads / Q000648:ultrastructure; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009030:Mosaicism; D032681:Spectral Karyotyping