Article

Prenatal and Postnatal Diagnosis and Phenotype of 8p23.2p22 Duplication in One Family

2020-09-21

Abstract excerpt

<title>Abstract</title> <p><bold>Background </bold>Distal 8p duplication is rare, but clinically significant.<bold>Methods </bold>A family has an induced labor fetal (II-2) for increased nuchal translucency (3.5mm) at 12 weeks gestation and detecting a 16.22Mb deletion of 8p23.2p22 by copy number variation sequencing (CNV-seq). Hence, the family requested family analysis and prenatal diagnosis of subject II-3. Al...

Topics

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

Identifiers and source

Literature Corpus work: c2b65014-c64c-5194-94c0-0df231510e89
DOI: 10.21203/rs.3.rs-52156/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Prenatal and Postnatal Diagnosis and Phenotype of 8p23.2p22 Duplication in One FamilyDOI 10.21203/rs.3.rs-52156/v1Read

Prenatal and postnatal diagnoses and phenotype of 8p23.3p22 duplication in one family.Semantic proximity Read

Diagnosis of prenatal 22q11.2 duplication syndrome: a two-case study.Semantic proximity Read

Phenotypic heterogeneity of Duplication Syndrome 22q11.2: relevance of genomic DNA analysisSemantic proximity Read

22q11.2 duplications: Expanding the clinical presentation.Semantic proximity Read

Prenatal phenotypes and pregnancy outcomes of fetuses with 16p11.2 microdeletion/microduplication.Semantic proximity Read

Prenatal diagnosis, ultrasound findings and pregnancy outcome of 7q11.23 deletion and duplication syndromes: what are the fetal features?Semantic proximity Read

Contrasting outcomes of 16p11.2 microdeletion and microduplication in prenatal diagnosis: phenotypic variability and genetic counseling strategies.Semantic proximity Read

Review of the Pathophysiology and Clinical Manifestations of 22q11.2 Deletion and Duplication SyndromesSemantic proximity Read

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patientsSemantic proximity Read

Prenatal detection of 10q22q23 duplications: dilemmas in phenotype prediction.Semantic proximity Read

Case report of a novel phenotype in 18q deletion syndrome.Semantic proximity Read

Prenatal diagnosis, ultrasound findings, and pregnancy outcome of 17q12 deletion and duplication syndromes: a retrospective case series.Semantic proximity Read