GATA4 (8p23) / SE 8 probe hybridized to patient material showing a deletion of the GATA4 (8p23) region (1R2G).


The deletion of GATA4 (8p23) is found in patients with congenital heart disease. Besides the deletion, duplications are found of the region flanked by low copy repeats 8p-OR-REPD (distal) and -REPP (proximal). These recurrent deletions are associated with a spectrum of anomalies, including developmental delay and neuropsychiatric findings. GATA4 is expressed in adult heart, epithelium and gonads. During fetal development, GATA4 is expressed in yolk sac endoderm and cells involved in heart formation. The GATA4 (8p23)/SE 8 FISH probe is optimized to detect deletions of the GATA4 gene region at 8p23 in a dual-color assay on metaphase/interphase spreads, blood smears and bone marrow cells. The Chromosome 8 Satellite Enumeration (SE) FISH probe is included to facilitate chromosome identification.

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Wat et al, 2009, Am. J. Med. Genet., Part A, 149A; 1661-1677.

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