Literature DB >> 7294715

[X short arm deletion and Turner syndrome. A new case 46, X, del (X) (p11) (author's transl)].

A Salesses, A Boissonnas, A Rouffet, F Baverel, R Caquet, P Bugard, C Laroche.   

Abstract

From a new case of a young woman with a rare X short arm deletion on band 11 and review of literature, it is suggested that loss of short arm by juxta-centromeric break does not involve complete somatic Turner syndrome. Short stature depends on distal deletion (p21 or p22). The p11 - p21 segment of X chromosome carries a gene essential for gonadal development.

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Year:  1981        PMID: 7294715

Source DB:  PubMed          Journal:  Ann Endocrinol (Paris)        ISSN: 0003-4266            Impact factor:   2.478


  3 in total

1.  Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height.

Authors:  T Ogata; N Matsuo
Journal:  Hum Genet       Date:  1993-07       Impact factor: 4.132

2.  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 3.  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

  3 in total

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