Literature DB >> 6859107

Ullrich-Turner syndrome associated with interstitial deletion of Xp11.4 leads to p22.31.

M G Wilson, O Modebe, J W Towner, S D Frasier, M S Lin.   

Abstract

The full phenotype of the Ullrich-Turner syndrome (UTS) is thought to be due to loss of the short arm of X. We report a 16-year-old girl with lack of secondary sexual development, amenorrhea, and short stature. She had thyroiditis and numerous other UTS manifestations and was found to have a non-mosaic 46,X,del(Xp) chromosome abnormality. Breakpoints occurred at p11.4 and p22.31, with a loss of the intervening segment.

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Year:  1983        PMID： 6859107     DOI： 10.1002/ajmg.1320140321

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  3 in total

1.  The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis.

Authors:  E Therman; B Susman
Journal:  Hum Genet       Date:  1990-07       Impact factor: 4.132

Review 2.  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

Review 3.  Duplication of the short arm of the X chromosome in mother and daughter.

Authors:  C M Tuck-Muller; J E Martinez; D A Batista; W G Kearns; W Wertelecki
Journal:  Hum Genet       Date:  1993-05       Impact factor: 4.132
  3 in total

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