Literature DB >> 982591

[Familial X-autosomal translocation t (X, 2)].

M V Mashkova, D K Verlinskaia.   

Abstract

A loss of part of the short arm of the X-chromosome and a partial trisomy of chromosome 2 were detected in a girl with the Shereshevsky--Turner syndrome; her karyotype was 46, Xt (X,2) (Xqter leads to Xp11 : : 2q36 leads to 2q ter). The patient's mother had a balanced X-autosomal translocation 46, X,t, (X,2) (Xq ter leads to Xp11 : : 2q36 leads to 2q ter; 2p ter leads to 2q36 : : Xp11 leads to Xp ter). The daughter's abnormal X-chromosome was a late labelling one, while her mother had the late label in the normal X-chromosome.

Entities:  

Mesh:

Year:  1976        PMID: 982591

Source DB:  PubMed          Journal:  Tsitologiia        ISSN: 0041-3771


  6 in total

Review 1.  The critical region on the human Xq.

Authors:  E Therman; R Laxova; B Susman
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

2.  DNA replication and inactivation patterns in structural abnormality of sex chromosomes. I.X-A translocations, rings, fragments, isochromosomes, and pseudo-isodicentrics.

Authors:  M Camargo; J Cervenka
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

3.  Structural anomalies of the X chromosome and inactivation center.

Authors:  M G Mattei; J F Mattei; I Vidal; F Giraud
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

4.  Structural aberrations of the X chromosome in man.

Authors:  E F Davidenkova; D K Verlinskaja; M V Mashkova
Journal:  Hum Genet       Date:  1978-04-24       Impact factor: 4.132

5.  X-autosome translocations: cytogenetic characteristics and their consequences.

Authors:  M G Mattei; J F Mattei; S Ayme; F Giraud
Journal:  Hum Genet       Date:  1982       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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