Array-CGH analysis of a patient with triphalangeal thumb-polysyndactyly syndrome combined with a complex congenital heart defect and optic disc coloboma

In this study we report on a rare neonatal case of triphalangeal thumb-polysyndactyly syndrome (TPT-PS) combined with a severe congenital heart disease, namely double outlet right ventricle (DORV), and microphthalmia with optic disc coloboma. High-resolution array-CGH revealed a ~ 299 kb microduplication of 7q36.3 locus encompassing a long-range sonic hedgehog (SHH) regulatory sequence (ZRS).