Delineation of the Critical Deletion Region for Congenital Heart Defects, on Chromosome 8p23.1
✍ Scribed by Koenraad Devriendt; Gert Matthijs; Roeland Van Dael; Marc Gewillig; Benedicte Eyskens; Helle Hjalgrim; Brigitte Dolmer; Julie McGaughran; Karen Bröndum-Nielsen; Peter Marynen; Jean-Pierre Fryns; Joris Robert Vermeesch
- Book ID
- 117852777
- Publisher
- American Society of Human Genetics
- Year
- 1999
- Tongue
- English
- Weight
- 682 KB
- Volume
- 64
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/302330
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Previous studies have shown that patients with deletion of distal human chromosome arm 8p may have congenital heart disease and other physical anomalies. The gene encoding GATA-4, a zinc finger transcription factor implicated in cardiac gene expression and development, localizes to chromosome region
We describe the clinical manifestations and molecular cytogenetic analyses of three patients with a similar distal deletion of chromosome 8. Each child had mild developmental delay and subtle minor anomalies. Two had cardiac anomalies but no other major congenital anomalies were present. High resolu