Refining chromosomal region critical for Down syndrome-related heart defects with a case of cryptic 21q22.2 duplication

Rika Kosaki, Kenjiro Kosaki, Kazushige Matsushima, Norimasa Mitsui, Naomichi Matsumoto, Hirofumi Ohashi

Research output: Contribution to journalArticle

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We report here a patient with features of Down syndrome and tetralogy of Fallot who had a 21q22 duplication. The extent of the duplication was defined using fluorescent hybridization probes that map to the critical region on chromosome 21. Included within the interval was the cell adhesion molecule DSCAM but not the collagen COL6A1. The present case provides further support to the concept that there exists Down syndrome-associated congenital heart disease gene(s) on chromosome 21q22 and that over-expression of DSCAM may contribute to the cardiac defects of Down syndrome.

Original languageEnglish
Pages (from-to)62-64
Number of pages3
JournalCongenital anomalies
Issue number2
Publication statusPublished - 2005 Jun 1



  • Down syndrome
  • Down syndrome-critical region
  • Tetralogy of Fallot
  • Trisomy 21

ASJC Scopus subject areas

  • Medicine(all)

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