Deletion in Exon-20 of ABCA12 Gene Causing Harlequin Ichthyosis

Abstract

Harlequin ichthyosis is a rare form of congenital ichthyosis and affects 1 in 300,000 live births. Both antenatal sonography and early molecular diagnosis are essential for precise genetic counseling and prognostication. Moreover, this information will also help parents to understand the need for prenatal genetic testing for future pregnancies.