2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype
- Autori: Piro E.; Serra G.; Giuffre M.; Schierz I.A.M.; Corsello G.
- Anno di pubblicazione: 2021
- Tipologia: Articolo in rivista
- OA Link: http://hdl.handle.net/10447/518079
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.