1.
Acta Genet Med Gemellol (Roma)
; 44(1): 1-7, 1995.
Article
in English
| MEDLINE
| ID: mdl-7653199
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.
Subject(s)
Amenorrhea/genetics , Gonadal Dysgenesis/genetics , Translocation, Genetic , Adult , Amenorrhea/complications , Chromosomes, Human, Pair 12 , Female , Gonadal Dysgenesis/complications , Humans , Karyotyping , Pedigree , Sex Chromatin , X Chromosome
2.
Prog Clin Biol Res
; 69A: 75-80, 1981.
Article
in English
| MEDLINE
| ID: mdl-7301898