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Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

โœ Scribed by Margaret J. Wat; Oleg A. Shchelochkov; Ashley M. Holder; Amy M. Breman; Aditi Dagli; Carlos Bacino; Fernando Scaglia; Roberto T. Zori; Sau Wai Cheung; Daryl A. Scott; Sung-Hae Lee Kang


Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
334 KB
Volume
149A
Category
Article
ISSN
1552-4825

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## Abstract Using an Affymetrix GeneChipยฎ Human Mapping 100K Set to study a patient with a lateโ€presenting, rightโ€sided diaphragmatic hernia and microphthalmia, we found a maternally inherited deletion that was 2.7โ€‰Mb in size at chromosome 18q22.1. Mapping of this deletion using fluorescence in sit

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