De novo partial trisomy 14 and extra marker chromosome in a newborn male with CHARGE syndrome

The characteristic phenotype of partial trisomy 14 includes growth and developmental retardation, microcephaly, distinctive facies and anomalies of the hands and feet. In many cases, the presence of marker chromosomes complicates the phenotypic picture. We describe a case of a newborn boy with partial trisomy 14 and a phenotype compatible with CHARGE syndrome. The patient presented with intrauterine growth retardation, coloboma, heart disease, choanae stenosis, cleft palate, corpus callosum genital anomalies, azygos anterior cerebral artery (ACA), single internal carotid artery (ICA) and ear anomalies. Cytogenetic analysis revealed trisomy 14pter→q24 and a supernumerary marker chromosome characterized by spectral karyotyping (SKY) and found to have been derived from chromosome 1. No pathogenic mutation was detected in the CHD7 gene. This case appears to be the first report of a patient having both trisomy 14 with marker chromosome 1 and the CHARGE syndrome, and it presents a unique opportunity to observe the overlapping phenotypic effects of two distinct chromosomal abnormalities.