2q13 microdeletion syndrome: report on a newborn with additional
features expanding the phenotype
- Ettore Piro,
- Gregorio Serra,
- Mario Giuffrè
, - Mandy Schierz,
- Giovanni Corsello
Gregorio Serra
Neonatology and Neonatal Intensive Care Unit, AOUP Paolo Giaccone, University of Palermo
Author ProfileMario Giuffrè
Neonatology and Neonatal Intensive Care Unit, AOUP Paolo Giaccone, University of Palermo
Author ProfileMandy Schierz
Neonatology and Neonatal Intensive Care Unit, AOUP Paolo Giaccone, University of Palermo
Author ProfileGiovanni Corsello
Neonatology and Neonatal Intensive Care Unit, AOUP Paolo Giaccone, University of Palermo
Author ProfileAbstract
In this paper we describe an additional newborn patient with
craniofacial dysmorphisms, congenital heart disease, hypotonia and a
2q13 deletion of 1.7 Mb, whose clinical and genomic findings are
consistent with the diagnosis of 2q13 microdeletion syndrome.08 Feb 2021Submitted to Clinical Case Reports 09 Feb 2021Submission Checks Completed
09 Feb 2021Assigned to Editor
25 Feb 2021Reviewer(s) Assigned
11 Mar 2021Review(s) Completed, Editorial Evaluation Pending
18 Mar 2021Editorial Decision: Revise Minor
21 Mar 20211st Revision Received
22 Mar 2021Submission Checks Completed
22 Mar 2021Assigned to Editor
22 Mar 2021Review(s) Completed, Editorial Evaluation Pending
28 Mar 2021Reviewer(s) Assigned
26 Apr 2021Editorial Decision: Accept
