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Refining chromosomal region critical for Down syndrome‐related heart defects with a case of cryptic 21q22.2 duplication
Author(s) -
Kosaki Rika,
Kosaki Kenjiro,
Matsushima Kazushige,
Mitsui Norimasa,
Matsumoto Naomichi,
Ohashi Hirofumi
Publication year - 2005
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/j.1741-4520.2005.00065.x
Subject(s) - gene duplication , chromosome 21 , down syndrome , tetralogy of fallot , chromosome , biology , fluorescence in situ hybridization , genetics , gene , medicine , heart disease , pathology
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.