5p15 Duplication: Clinical Features in a Preterm Infant

Abstract

Trisomy 5p is a rare chromosomal abnormality that results from the partial or complete duplication of chromosome 5. Commonly reported clinical features of Trisomy 5p include congenital heart defects, respiratory failure, seizures, and developmental delay. To date, all reported cases of Trisomy 5p have been school-aged children or adults. We present the first case of an infant who was born preterm with multiple congenital anomalies and subsequently diagnosed with 5p15.1p11 duplication via whole exome sequencing. While our patient shares some of the major features of classic Trisomy 5p, the infant has other clinical features not previously described.