Literature DB >> 457129

Partial long arm deletion of one X chromosome in a patient with secondary amenorrhea.

U Ruthner, S Maschik, F Friedrich, G Breitenecker.   

Abstract

A partial long arm deletion of one X chromosome was observed in a patient with secondary amenorrhea and with no features of Turner's syndrome. It was shown that the deleted X chromosome was the inactivated one in all metaphases of the lymphocyte culture and of the tissue culture from gonadal biopsy. The patient was detected during a cytogenetic study of secondary amenorrhea of ovarian origin.

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Year:  1979        PMID： 457129     DOI： 10.1007/bf00273288

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  2 in total

1.  The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosomes of man.

Authors:  M Seabright
Journal:  Chromosoma       Date:  1972       Impact factor: 4.316

2.  [Differentiation of X chromosomes by despiralization methods using 5-bromodeoxyuridine (BUDR) and controlled thermal denaturation].

Authors:  L T Baranovskaya; A F Zakharov; B Dutrillaux; S Carpentier; M Prieur; J Lejeune
Journal:  Ann Genet       Date:  1972-12
  2 in total
  6 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.  Inactivation centers in the human X chromosome.

Authors:  Y Nakagome
Journal:  Am J Hum Genet       Date:  1982-03       Impact factor: 11.025

3.  Isodicentric X chromosome in a moderately tall patient with gonadal dysgenesis: lack of effect of functional centromere on inactivation pattern.

Authors:  J Robertson; M J Faed; M A Lamont; A M Crowder
Journal:  J Med Genet       Date:  1982-12       Impact factor: 6.318

4.  X long-arm deletions. A review of non-mosaic cases studied with banding techniques.

Authors:  L Skibsted; H Westh; E Niebuhr
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

5.  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 6.  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
  6 in total

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