2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype

Abstract

Abstract We describe an additional newborn with craniofacial dysmorphisms, congenital heart disease, hypotonia, and a 2q13 deletion of 1.7 Mb. The clinical and genomic findings observed are consistent with the diagnosis of 2q13 microdeletion syndrome.

Keywords

• chromosome 2
• CNVs
• follow‐up
• genotype‐phenotype correlations
• newborn