6533b81ffe1ef96bd127734b
RESEARCH PRODUCT
2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype
Gregorio SerraIngrid Anne Mandy SchierzGiovanni CorselloEttore PiroMario Giuffrèsubject
Pediatricsmedicine.medical_specialtyMedicine (General)Heart diseaseCNVgenotype-phenotype correlationR5-920newborngenotype‐phenotype correlationsfollow-upmedicineCraniofacialGenotype-Phenotype Correlationschromosome 2newborn.GeneticsCNVsfollow‐upbusiness.industryRGeneral MedicineMicrodeletion syndromemedicine.diseasePhenotypeHypotoniaMedicinemedicine.symptombusinessdescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2021-06-01 | Clinical Case Reports |