2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype
Ettore Piro, Gregorio Serra, Mario Giuffrè, Ingrid Anne Mandy Schierz, Giovanni Corsello
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.
Topics & Concepts
MedicineHypotoniaPhenotypeCraniofacialGeneticsPediatricsGeneBiologyPsychiatryGenomic variations and chromosomal abnormalitiesCongenital heart defects researchCongenital Ear and Nasal Anomalies