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

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. We describe an additional newborn with craniofacial dysmo...

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Bibliographic Details
Published inClinical case reports Vol. 9; no. 6
Main Authors Piro, Ettore, Serra, Gregorio, Giuffrè, Mario, Schierz, Ingrid Anne Mandy, Corsello, Giovanni
Format Journal Article
LanguageEnglish
Published Bognor Regis John Wiley & Sons, Inc 01.06.2021
Wiley
Subjects
Asymmetry
Autism
Cardiovascular disease
Case reports
chromosome 2
Chromosomes
CNVs
Congenital diseases
follow‐up
Gene expression
Genomes
Genotype & phenotype
genotype‐phenotype correlations
Hearing loss
Heart
Medical screening
newborn
Nose
Patients
Proteins
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Summary: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. 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.
Bibliography:ObjectType-Article-1
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ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.4289