Literature DB >> 3207028

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

J Knudtzon1, P Ledaal, M Middelthon-Moe, D Aarskog.   

Abstract

The unusual karyotype 45,X/47,XY,+13 in an 8.5-year-old girl with the Turner phenotype is described. She displayed none of the phenotypic manifestations of trisomy 13. The patient suffered from Crohn's disease, which is known to be associated with the Turner syndrome. To our knowledge this is the first reported case of Crohn's disease in a patient with 45,X and Y chromosome mosaicism.

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Mesh：

Year:  1988        PMID： 3207028     DOI： 10.1111/j.1651-2227.1988.tb10784.x

Source DB:  PubMed          Journal:  Acta Paediatr Scand        ISSN： 0001-656X


  6 in total

Review 1.  Is Crohn's disease an immunodeficiency? A hypothesis suggesting possible early events in the pathogenesis of Crohn's disease.

Authors:  J R Korzenik; B K Dieckgraefe
Journal:  Dig Dis Sci       Date:  2000-06       Impact factor: 3.199

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

Authors:  B Eiben; S Hansen; R Goebel; W Hammans
Journal:  Hum Genet       Date:  1989-07       Impact factor: 4.132

3.  A genomewide analysis provides evidence for novel linkages in inflammatory bowel disease in a large European cohort.

Authors:  J Hampe; S Schreiber; S H Shaw; K F Lau; S Bridger; A J Macpherson; L R Cardon; H Sakul; T J Harris; A Buckler; J Hall; P Stokkers; S J van Deventer; P Nürnberg; M M Mirza; J C Lee; J E Lennard-Jones; C G Mathew; M E Curran
Journal:  Am J Hum Genet       Date:  1999-03       Impact factor: 11.025

4.  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 5.  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

6.  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
  6 in total

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