Literature DB >> 1385628

Tissue-specific mosaicism for trisomy 21 and congenital heart disease.

Y Yokoyama1, K Narahara, M Kamada, K Tsuji, Y Seino.   

Abstract

Cytogenetic studies in a girl with ventricular septal defect and mosaicism for trisomy 21 showed that trisomy was present in most cells from the myocardium and lung but in only a minority from the skin and lymphocytes. These findings emphasize the importance of tissue-specific mosaicism as a cause of certain cardiovascular diseases.

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Year:  1992        PMID: 1385628     DOI: 10.1016/s0022-3476(05)82547-8

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  3 in total

Review 1.  The genetics of isolated congenital heart disease.

Authors:  Shannon N Nees; Wendy K Chung
Journal:  Am J Med Genet C Semin Med Genet       Date:  2019-12-26       Impact factor: 3.908

2.  Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations.

Authors:  Stella Marie Reamon-Buettner; Hartmut Hecker; Katharina Spanel-Borowski; Steffen Craatz; Eberhard Kuenzel; Juergen Borlak
Journal:  Am J Pathol       Date:  2004-06       Impact factor: 4.307

3.  Multi-tissue cytogenetic analysis for the diagnosis of mosaic Down syndrome: A case report.

Authors:  Wilberg A Moncada Arita; Eduardo Smelin Perdomo Domínguez; Astrid Yohaly Rivera Caballero; Nelson A Espinoza-Moreno; Mauricio E Zavala Galeano; Barbara R DuPont; Héctor M Ramos-Zaldívar
Journal:  Clin Case Rep       Date:  2022-04-08
  3 in total

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