title: Familial occurrence of isodicentric X chromosomes with different breakpoints.
abstract: We report two cases of an idic (X) chromosome found in relatives with Turner's syndrome. A 21-year-old female revealed a non-mosaic form of X isochromosome of the long arms with two C-band regions, i.e. dic(X)(qter----cen----p11::p11----cen----qter). Her 46-year-old aunt with Turner's syndrome had an X chromosome with long arm breakpoints at site q21 and chromosomal mosaicism, i.e. 45,X/46,X, dic(X)(pter----q21::q21----pter)(78/22). The relative rarity of reports about familial Turner's syndrome with structural abnormality may suggest a coincidence. However, it is difficult to exclude familial predisposition to X isochromosome formation in this family.
authors.affiliation: Department of Clinical Genetics, Medical Academy, Bialystok, Poland.
authors.forename: A T
authors.initials: AT
authors.lastname: Midro
authors.forename: M
authors.initials: M
authors.lastname: Kulikowski
authors.forename: A
authors.initials: A
authors.lastname: Sawicka
authors.forename: B
authors.initials: B
authors.lastname: Panasiuk
authors.forename: E
authors.initials: E
authors.lastname: Korsak
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D007621:Karyotyping; D008875:Middle Aged; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014424:Turner Syndrome / Q000235:genetics; D014960:X Chromosome