Amenorrhea in gonadal dysgenesis, caused by chromosomal translocation.
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.
Gedda
L
L
Gregor Mendel Institute, Rome.
Carrega
R
R
Borgese
L
L
Strollo
F
F
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