A maternally inherited chromosome 18q22.1 deletion in a male with late‐presenting diaphragmatic hernia and microphthalmia–evaluation of <i>DSEL</i> as a candidate gene for the diaphragmatic defect

Abstract excerpt

Using an Affymetrix GeneChip(R) Human Mapping 100K Set to study a patient with a late-presenting, right-sided diaphragmatic hernia and microphthalmia, we found a maternally inherited deletion that was 2.7 Mb in size at chromosome 18q22.1. Mapping of this deletion using fluorescence in situ hybridization revealed three deleted genes-CDH19, DSEL, and TXNDC10, and one gene that contained the deletion breakpoint,...

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