Literature DB >> 3180502

Familial occurrence of isodicentric X chromosomes with different breakpoints.

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.

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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


  4 in total

Review 1.  Three patients with a 45,X/46,X,psu dic(Xp) karyotype.

Authors:  P Dalton; B Coppin; R James; D Skuse; P Jacobs
Journal:  J Med Genet       Date:  1998-06       Impact factor: 6.318

2.  Study on the relationship between cytogenetics and phenotypic effect in Turner's syndrome.

Authors:  X Hu; B Zhu; H Lin; D Shu; D Tao; M Wang
Journal:  J Tongji Med Univ       Date:  1996

3.  Isodicentric X chromosome in a patient with Turner syndrome--implications for localization of the X-inactivation center.

Authors:  A L Pettigrew; E R McCabe; F F Elder; D H Ledbetter
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

Review 4.  Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features.

Authors:  T Ogata; N Matsuo
Journal:  Hum Genet       Date:  1995-06       Impact factor: 4.132

  4 in total

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