Literature DB >> 1083194

[A second example of telomeric fusion 2 X chromosomes].

J Fraisse, C Laurent, N Collard, M C Biemont, B Dutrillaux.   

Abstract

A translocation which originated by telomeric "fusion" of X short arms, t(X;X), was found in a woman with primary amenorrhea and a phenotype corresponding partially to Turner's syndrome. Staining with acridine orange after BrdU incorporation showed the distal segments of both Xp's to be much more modified by the treatment than equivalent segments of normal late replicating X's. This could mean important inactivation of segments usually active even in late replicating X's. This functional monosomy for X would have a clinical effect similar to a true monosomy.

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Year:  1975        PMID: 1083194

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  18 in total

1.  A girl with mosaicism for a dicentric X chromosome (45,X/46,X,dic(X) (Xqter to p22::p22 to qter)).

Authors:  J F Mattei; H Taramasco; M G Mattei; C Lucas; L Aubert; F Giraud
Journal:  Hum Genet       Date:  1977-08-31       Impact factor: 4.132

2.  A girl with an end-to-end fusion of two X'S.

Authors:  C Stoll; C Lausecker; A Pennerath
Journal:  Eur J Pediatr       Date:  1979-05-18       Impact factor: 3.183

3.  Two cases of ring chromosome 11.

Authors:  D R Romain; O B Gebbie; R G Parfitt; L M Columbano-Green; R H Smythe; C J Chapman; A Kerr
Journal:  J Med Genet       Date:  1983-10       Impact factor: 6.318

4.  Analysis of the DNA replication pattern of a translocation (tX/X, qter----p221::p223----qter) chromosome in leukocyte and fibroblast cultures.

Authors:  F Pelliccia; M Ferraro; C Mostacci; A de Capoa
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

5.  Inactivation centers in the human X chromosome.

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

6.  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

7.  The Turner phenotype and the different types of human x isochromosome.

Authors:  P G Otto; A M Vianna-Morgante; P A Otto; A Wajntal
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

8.  Cytogenetic and clinical studies in gonadal dysgenesis with 46,X,Xt(qter leads to p221::p223 leads to qter) karyotype: review and phenotype/karyotype correlations.

Authors:  M Ferraro; A De Capoa; C Mostacci; F Pelliccia; P Zulli; M A Baldini; Q Di Nisio
Journal:  J Med Genet       Date:  1980-12       Impact factor: 6.318

9.  Further dicentric X isochromosomes and deletions, and a new structure i(X)(pter to q2102 to pter).

Authors:  A Daniel; T Saville; D B Southall
Journal:  J Med Genet       Date:  1979-08       Impact factor: 6.318

10.  Symmetrical replication patterns and sex chromatin bodies formation of an idic(X)(p22.3::p22.3) chromosome.

Authors:  O Mutchinik; L Casas; L Ruz; R Lisker; O Lozano
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

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