A Case of Chromosome 7q34 Deletion in an Infant with Hypothalamic Hamartoma and Biliary Atresia

Abstract

The chromosome 7q terminal deletion is a rare chromosomal disorder. It was first described in 1968 and has shown to have diverse clinical phenotypes. In this report, the phenotypes include growth retardation, bulbous nasal tip, microcephaly, abnormal ears, and hearing loss. In addition, we report on a new case of 7q34 deletion presenting with hypothalamic hamartoma and biliary atresia with a review of associated literatures.