title: Amenorrhea in gonadal dysgenesis, caused by chromosomal translocation.
abstract: A healthy 23-year-old woman with amenorrhea was examined at the Mendel Institute. She had been amenorrheic for 4 years, and had not responded to hormone treatment. We therefore decided to study her family tree and karyotype. We describe the results of our study here: the patient was found to have gonadal dysgenesis, caused by translocation of a fragment of the X to a 12 chromosome, resulting from a break at q21, at the end of the q-arm.
authors.affiliation: Gregor Mendel Institute, Rome.
authors.forename: L
authors.initials: L
authors.lastname: Gedda
authors.forename: R
authors.initials: R
authors.lastname: Carrega
authors.forename: L
authors.initials: L
authors.lastname: Borgese
authors.forename: F
authors.initials: F
authors.lastname: Strollo
mesh_terms: D000328:Adult; D000568:Amenorrhea / Q000150:complications / Q000235:genetics*; D002881:Chromosomes, Human, Pair 12; D005260:Female; D006059:Gonadal Dysgenesis / Q000150:complications / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D010375:Pedigree; D012728:Sex Chromatin; D014178:Translocation, Genetic; D014960:X Chromosome