Literature DB >> 2737672

Tissue-specific 45,X0/47,XY,+13 mosaicism in an 18-year-old woman.

B Eiben1, S Hansen, R Goebel, W Hammans.   

Abstract

The case of an 18-year-old woman with a 47,XY,+13 karyotype in lymphocytes and a 45,X0 karyotype in all other tissue analyzed is presented. The proposita shows no stigmata of the Patau syndrome and no masculinization.

Entities:  

Mesh：

Year:  1989        PMID： 2737672     DOI： 10.1007/bf00274005

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


  5 in total

1.  [45, X/47, XY, +13 mosaicism in a 19-year-old girl].

Authors:  M Prieur; B Dutrillaux; J Lafourcade; C Roy; J Lejeune
Journal:  Ann Genet       Date:  1976-09

2.  Turner phenotype: mosaic 45,X-47,XY, plus 18.

Authors:  A Schinzel; W Schmid; A Prader
Journal:  J Med Genet       Date:  1974-03       Impact factor: 6.318

3.  The pathology of trisomy 13 syndrome. A study of 12 cases.

Authors:  P Moerman; J P Fryns; K van der Steen; A Kleczkowska; J Lauweryns
Journal:  Hum Genet       Date:  1988-12       Impact factor: 4.132

4.  Long survival in trisomy-13-syndrome: 21 cases including prolonged survival in two patients 11 and 19 years old.

Authors:  R Redheendran; R L Neu; R M Bannerman
Journal:  Am J Med Genet       Date:  1981

5.  45,X/47,XY,+13 mosaicism and Crohn's disease.

Authors:  J Knudtzon; P Ledaal; M Middelthon-Moe; D Aarskog
Journal:  Acta Paediatr Scand       Date:  1988-11
  5 in total
  5 in total

1.  Karyotype 69,XXX/47,XX,+15 in a 2 1/2 year old child.

Authors:  J Dean; G Cohen; J Kemp; L Robson; V Tembe; J Hasselaar; B Webster; A Lammi; A Smith
Journal:  J Med Genet       Date:  1997-03       Impact factor: 6.318

2.  Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance.

Authors:  Kelly L Jones; Erin A McNamara; Mauro Longoni; Danny E Miller; Mersedeh Rohanizadegan; Laura A Newman; Frances Hayes; Lynne L Levitsky; Betty L Herrington; Angela E Lin
Journal:  Am J Med Genet A       Date:  2018-08-06       Impact factor: 2.802

Review 3.  Development of patients with 47,XX,+13/45,X mosaics: case report and review of the literature.

Authors:  Hao-Wei Tang; Su-Fen Liao; Jyun-Sian Li
Journal:  Eur J Pediatr       Date:  2013-05-12       Impact factor: 3.183

4.  Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism.

Authors:  Karin Huijsdens-van Amsterdam; Daniela Qcm Barge-Schaapveld; Inge B Mathijssen; Mariëlle Alders; Eva Pajkrt; Alida C Knegt
Journal:  Mol Cytogenet       Date:  2012-01-27       Impact factor: 2.009

5.  A rare case of mosaic 45,X/47,XX,+13 in 28-year-old women with secondary amenorrhoea: A case report and literature review.

Authors:  Mohit Kumar; Vandana Lal; Shilpa Chapadgaonkar; Saurabh Kumar Bhattacharya
Journal:  Meta Gene       Date:  2014-12-12
  5 in total

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