Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Intrauterine phenotype features of fetuses with Williams-Beuren syndrome and literature review.

Annals of human genetics - 1 Mar 2020

Yuan Meizhen, Deng Linbei, Yang Yingjun, Sun Luming

Abstract excerpt

Williams-Beuren syndrome (WBS) is a well-defined multisystem chromosomal disorder that is caused by a chromosome 7q11.23 region heterozygous deletion. We explored prenatal diagnosis of WBS by ultrasound as well as multiple genetic methods to characterize the structural variants of WBS prenatally. Expanded noninvasive prenatal testing (NIPT-plus) was elected as a regular prenatal advanced screen for risk...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aneuploidy
Share to Cytogenetic Analysis
Share to Fetus

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Prenatal Diagnosis

Share to Prognosis

Share to Ultrasonography

Share to Williams Syndrome

Source

Identifiers

PMID: 31711272
DOI: 10.1111/ahg.12360

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Intrauterine phenotype features of fetuses with Williams-Beuren syndrome and literature review.PMID 31711272Read ↗

Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysisSemantic proximity Read ↗

Prenatal genetic diagnosis of Williams-Beuren syndrome with atypical and complex phenotypes using SNP array and whole exome sequencingSemantic proximity Read ↗

Characterization of the Prenatal Ultrasound Phenotype Associated With 7q11.23 Microduplication Syndrome and Williams-Beuren Syndrome.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 ↗

Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients.Semantic proximity Read ↗

Prenatally diagnosed chromosome 1p36 deletions: a retrospective case series, literature review, and genotype-phenotype correlations.Semantic proximity Read ↗

Williams-Beuren Syndrome: Experience of 43 Patients and a Report of an Atypical Case from a Tertiary Care Center in India.Semantic proximity Read ↗

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

Clinical features and genetic analysis of 471 cases of fetal congenital heart disease.Semantic proximity Read ↗

Prenatal Genetic and Sonographic Features of KBG Syndrome: A Cohort Study of 19 Fetal CasesSemantic proximity Read ↗

Extending the prenatal Noonan's phenotype by review of ultrasound and autopsy data.Semantic proximity Read ↗

Prenatal phenotype of Wolf-Hirschhorn syndrome: A case series and literature review.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.