Literature DB >> 47795

Symptoms of Turner's syndrome and interstitial heterochromatin in i(Xq).

S Yanagisawa, H Yokoyama.   

Abstract

A girl is presented with "isochromosome" X mosaicism, 45,X/46,X,i(Xq)/47,X,i(Xq),i(Xq). The "isochromosome" had an unusual extra band close to the centromere on one arm. The patient had some signs of Turner's syndrome, myopia and optic nerve atrophy.

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Year:  1975        PMID： 47795     DOI： 10.1111/j.1399-0004.1975.tb00332.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  8 in total

1.  Dicentric X isochromosomes in man.

Authors:  R T Howell; S H Roberts; R J Beard
Journal:  J Med Genet       Date:  1976-12       Impact factor: 6.318

2.  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

3.  The origin and behavior of two isodicentric bisatellited chromosomes.

Authors:  D L Van Dyke; L Weiss; M Logan; G S Pai
Journal:  Am J Hum Genet       Date:  1977-05       Impact factor: 11.025

4.  Number of C-bands of human isochromosome Xqi and relation to 45,X mosaicism.

Authors:  L Y Hsu; S Paciuc; K David; S Cristian; R Moloshok; K Hirschhorn
Journal:  J Med Genet       Date:  1978-06       Impact factor: 6.318

5.  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

6.  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

7.  Stable dicentric autosome, tdic (8:22)(p23:p13), in a mentally retarded girl.

Authors:  S H Roberts; R T Howell; K M Laurence; M E Heathcote
Journal:  J Med Genet       Date:  1977-02       Impact factor: 6.318

8.  A Rare Case of Unilateral Morning Glory Disc Anomaly in a Patient with Turner Syndrome: Report and Review of Posterior Segment Associations.

Authors:  Dev R Sahni; Michael Wallace; Mansi Kanhere; Hind Al Saif; Natario Couser
Journal:  Case Rep Ophthalmol Med       Date:  2018-06-28
  8 in total

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