De novo 2q36.1q36.3 interstitial deletion involving the <i>PAX3</i> and <i>EPHA4</i> genes in a fetus with spina bifida and cleft palate

Abstract

The present study reinforces the hypothesis that PAX3 haploinsufficiency may be associated with neural tube defects in humans and suggests that the EPHA4 gene might be implicated during palate development. This report also illustrates the added value of array-CGH to detect cryptic chromosomal imbalances in malformed fetuses and to improve genetic counseling prenatally.