Literature DB >> 3612719

An isodicentric X chromosome with short arm fusion in a woman without somatic features of Turner's syndrome.

I C Barnes, D J Curtis, S L Duncan.   

Abstract

A 25 year old woman with gonadal dysgenesis but no other somatic features of Turner's syndrome was found to have a 45,X/46,XidicX(p22.3) karyotype. It is postulated that because her stature is within the normal range there has been no loss of genetic material in the fusion of the two Xs. Her mother, who also had a history of menstrual problems, was found to be a 46,XX/47,XXX mosaic.

Entities:  

Mesh：

Year:  1987        PMID： 3612719      PMCID： PMC1050152          DOI： 10.1136/jmg.24.7.428

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  10 in total

Review 1.  KARYOTYPE-PHENOTYPE CORRELATIONS IN GONADAL DYSGENESIS AND THEIR BEARING ON THE PATHOGENESIS OF MALFORMATIONS.

Authors:  M A FERGUSON-SMITH
Journal:  J Med Genet       Date:  1965-06       Impact factor: 6.318

Review 2.  Structural abnormalities of the sex chromosomes.

Authors:  P A Jacobs
Journal:  Br Med Bull       Date:  1969-01       Impact factor: 4.291

Review 3.  X-chromosome polysomy in the female: personal experience and review of the literature.

Authors:  J P Fryns; A Kleczkowska; P Petit; H van den Berghe
Journal:  Clin Genet       Date:  1983-05       Impact factor: 4.438

Review 4.  Sex-chromosome pairing and male fertility.

Authors:  G L Miklos
Journal:  Cytogenet Cell Genet       Date:  1974

5.  Replication and inactivation of a dicentric X formed by telomeric fusion.

Authors:  G E Sarto; E Therman
Journal:  Am J Obstet Gynecol       Date:  1980-04-01       Impact factor: 8.661

6.  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

7.  Women heterozygous for deficiency of the (p21 leads to pter) region of the X chromosome are fertile.

Authors:  M Fraccaro; P Maraschio; F Pasquali; S Scappaticci
Journal:  Hum Genet       Date:  1977-12-23       Impact factor: 4.132

8.  On telomere replication and fusion in eukaryotes: apropos of a case of 45,X/46,X,ter rea(X;X)(p22.3;p22.3).

Authors:  H Rivera; M T Solé; D García-Cruz; M Martínez-Wilson; J M Cantú
Journal:  Cytogenet Cell Genet       Date:  1984

9.  Fertility in 47,XXX and 45,X patients.

Authors:  J Dewhurst
Journal:  J Med Genet       Date:  1978-04       Impact factor: 6.318

10.  Fertility in patients with X chromosome deletions.

Authors:  J P Fryns; A Kleczkowska; P Petit; H van den Berghe
Journal:  Clin Genet       Date:  1982-08       Impact factor: 4.438
  10 in total

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