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
Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia
โ 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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The prenatal diagnosis of an 8p23.1 deletion is reported. The diagnosis was ascertained at 22 weeks of gestation because of the discovery of a diaphragmatic hernia at ultrasound. Following cytogenetic studies and counselling, the pregnancy was terminated. An autopsy confirmed the presence of a diaph
## Abstract Using an Affymetrix GeneChipยฎ Human Mapping 100K Set to study a patient with a lateโpresenting, rightโsided diaphragmatic hernia and microphthalmia, we found a maternally inherited deletion that was 2.7โMb in size at chromosome 18q22.1. Mapping of this deletion using fluorescence in sit
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