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

doi:10.1111/j.1741-4520.2005.00065.x

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

Center for Medical Genetics

Research output: Contribution to journal › Article › peer-review

16 Citations (Scopus)

Abstract

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 language	English
Pages (from-to)	62-64
Number of pages	3
Journal	Congenital anomalies
Volume	45
Issue number	2
DOIs	https://doi.org/10.1111/j.1741-4520.2005.00065.x
Publication status	Published - 2005 Jun 1

Keywords

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

ASJC Scopus subject areas

Medicine(all)

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10.1111/j.1741-4520.2005.00065.x

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abstract = "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.",

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AU - Kosaki, Rika

AU - Kosaki, Kenjiro

AU - Matsushima, Kazushige

AU - Mitsui, Norimasa

AU - Matsumoto, Naomichi

AU - Ohashi, Hirofumi

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AB - 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.

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KW - Down syndrome-critical region

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KW - Trisomy 21

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

Abstract

Keywords

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