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

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

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.

Bibliographic Details
Main Authors: Ettore Piro, Gregorio Serra, Mario Giuffrè, Ingrid Anne Mandy Schierz, Giovanni Corsello
Format: Article
Language:English
Published: Wiley 2021-06-01
Series:Clinical Case Reports
Subjects:
chromosome 2
CNVs
follow‐up
genotype‐phenotype correlations
newborn
Online Access:https://doi.org/10.1002/ccr3.4289

Internet

https://doi.org/10.1002/ccr3.4289

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