Article

2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report

2023-01-03

Abstract excerpt

<title>Abstract</title> <p>Background 2q31 deletion creates a characteristic phenotype including mild-to-severe developmental delay, short stature, facial dysmorphism, and variable defects on the extremities. The dysmorphic characteristics include microcephaly, downslanting palpebral fissures, a long and flat philtrum, micrognathia, and dysplastic and low-set ears. To date, 38 patients have been diagnosed using...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e1bde45a-3ac1-56e8-a4ad-8b30749ea6f9
DOI: 10.21203/rs.3.rs-2331064/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case reportDOI 10.21203/rs.3.rs-2331064/v1Read

2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report.Semantic proximity Read

The 22q11.2 deletion syndrome.Semantic proximity Read

Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome.Semantic proximity Read

A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases.Semantic proximity Read

Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area22q11.2: Report of five families with a review of the literatureSemantic proximity Read

BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1Semantic proximity Read

2q31.1 microdeletion syndrome: redefining the associated clinical phenotype.Semantic proximity Read

Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical ApproachSemantic proximity Read

Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Cinical ApproachSemantic proximity Read

Prenatal and Postnatal Diagnosis and Phenotype of 8p23.2p22 Duplication in One FamilySemantic proximity Read

Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly.Semantic proximity Read

Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome.Semantic proximity Read