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2q13 microdeletion syndrome: report on a newborn with additional features expanding the phenotype
  • +2
  • Ettore Piro,
  • Gregorio Serra,
  • Mario Giuffrè,
  • Mandy Schierz,
  • Giovanni Corsello
Ettore Piro
Neonatology and Neonatal Intensive Care Unit, AOUP Paolo Giaccone, University of Palermo
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Gregorio Serra
Neonatology and Neonatal Intensive Care Unit, AOUP Paolo Giaccone, University of Palermo
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Mario Giuffrè
Neonatology and Neonatal Intensive Care Unit, AOUP Paolo Giaccone, University of Palermo
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Mandy Schierz
Neonatology and Neonatal Intensive Care Unit, AOUP Paolo Giaccone, University of Palermo
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Giovanni Corsello
Neonatology and Neonatal Intensive Care Unit, AOUP Paolo Giaccone, University of Palermo
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Abstract

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.

Peer review status:ACCEPTED

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