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

Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome.

American journal of medical genetics. Part A - 1 Aug 2018

Schindewolf Erica, Khalek Nahla, Johnson Mark P, Gebb Juliana, Coleman Beverly, Crowley Terrence Blaine, Zackai Elaine H, McDonald-McGinn Donna M, Moldenhauer Julie S

Abstract excerpt

22q deletion syndrome (22q11.2DS) is most often correlated prenatally with congenital heart disease and or cleft palate. The extracardiac fetal phenotype associated with 22q11.2DS is not well described. We sought to review both the fetal cardiac and extracardiac findings associated with a cohort of cases ascertained prenatally, confirmed or suspected to have 22q11.2DS, born and cared for in one center. A...

Read the complete abstract on PubMed

Topics

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

Share to Cleft Palate
Share to DiGeorge Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fetal Diseases

Share to Gestational Age

Share to Heart Defects, Congenital

Share to Pregnancy Outcome

Share to Ultrasonography, Prenatal

Source

Open in PubMed Open full text

Identifiers

PMID: 30055034
DOI: 10.1002/ajmg.a.38665
PMCID: PMC6467263

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome.PMID 30055034Read ↗

Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well‐established knowledge to new frontiersSemantic proximity Read ↗

[Prenatal ultrasound manifestations and postnatal follow-up of fetuses with 22q11.2 microdeletion syndrome].Semantic proximity Read ↗

Fetal phenotype associated with the 22q11 deletion.Semantic proximity Read ↗

Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome.Semantic proximity Read ↗

A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population.Semantic proximity Read ↗

Genetic analyses in two extended families with deletion 22q11 syndrome: importance of extracardiac manifestations.Semantic proximity Read ↗

Prenatal Screening and Diagnostic Considerations for 22q11.2 MicrodeletionsSemantic proximity Read ↗

[Review of 22 patients with 22q11.2 deletion syndrome: phenotype spectrum].Semantic proximity Read ↗

Prenatal diagnosis of the 22q11.2 deletion syndrome.Semantic proximity Read ↗

Rare and Complex Cardiac Anomalies Associated with 22q11.2 Deletion: An Ultrasonographic Visual Trip from Diagnosis until DeliverySemantic proximity Read ↗

A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomesSemantic proximity Read ↗

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

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