| Literature DB >> 3180502 |
A T Midro1, M Kulikowski, A Sawicka, B Panasiuk, E Korsak.
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.Entities:
Mesh:
Year: 1988 PMID: 3180502 DOI: 10.1111/j.1399-0004.1988.tb02855.x
Source DB: PubMed Journal: Clin Genet ISSN: 0009-9163 Impact factor: 4.438