title: Ovarian dysgenesis with balanced autosomal translocation.
abstract: Autosomal translocations are rare in the patients with ovarian dysgenesis. An 18-year-old female who presented with primary amenorrhoea had hypergonadotropic hypogonadism and streak ovaries with hypoplastic uterus. Karyotype analysis revealed a balanced autosomal translocation involving chromosomes 1 and 11. The probable role of autosomal translocations in ovarian dysgenesis has been discussed.
authors.affiliation: Genetics Division, Department of Paediatrics, Seth G.S. Medical College and KEM Hospital, Parel, Mumbai - 400 012, India. milindtullu@vsnl.net
authors.forename: M S
authors.initials: MS
authors.lastname: Tullu
authors.forename: P
authors.initials: P
authors.lastname: Arora
authors.forename: R C
authors.initials: RC
authors.lastname: Parmar
authors.forename: M N
authors.initials: MN
authors.lastname: Muranjan
authors.forename: B A
authors.initials: BA
authors.lastname: Bharucha
mesh_terms: D000293:Adolescent; D000568:Amenorrhea / Q000235:genetics; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D010053:Ovary / Q000002:abnormalities*; D014178:Translocation, Genetic / Q000235:genetics*