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

Prenatal diagnosis of 7q11.23 microdeletion: Two cases report and literature review

27 Oct 2023

Abstract excerpt

RATIONALE: Chromosome microdeletions within 7q11.23 can result in Williams-Beuren syndrome which is a rare autosomal dominant disorder. Williams-Beuren syndrome is usually associated with developmental delay, cardiovascular anomalies, mental retardation, and characteristic facial appearance. PATIENT CONCERNS: Two pregnant women underwent amniocentesis for cytogenetic analysis and chromosomal microarray analysis...

Read the complete abstract on PubMed

Topics

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

Share to Congenital Ear and Nasal Anomalies
Share to Congenital heart defects research
Share to Williams Syndrome Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 37904428
DOI: 10.1097/md.0000000000034852

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prenatal diagnosis of 7q11.23 microdeletion: Two cases report and literature reviewPMID 37904428Read ↗

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

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.Semantic proximity Read ↗

7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsySemantic proximity Read ↗

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

Genotype-phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams-Beuren syndrome.Semantic proximity Read ↗

[Diagnosis of a case with Williams-Beuren syndrome by single nucleotide polymorphism array].Semantic proximity Read ↗

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

Williams-Beuren syndrome: unraveling the mysteries of a microdeletion disorder.Semantic proximity Read ↗

Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome.Semantic proximity Read ↗

Prenatal diagnosis of 9p distal deletion associated with subependymal cysts: A case report and literature review.Semantic proximity Read ↗

Familial 7q11.23 duplication with variable phenotype.Semantic proximity Read ↗

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