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

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

Psychiatric genetics - 1 Sept 2026

Guo Qiu, Zhang Li, Zuo Yi, Mei Jiale, Zhang Chengcheng

Abstract excerpt

BACKGROUND: Copy number variations (CNVs) in the 16p11.2 region are associated with neurodevelopmental disorders, but they exhibit incomplete penetrance and variable expressivity. Prenatal diagnosis of these CNVs presents significant challenges because of the unpredictable phenotypic outcomes. MATERIALS AND METHODS: We retrospectively analyzed two fetal cases diagnosed prenatally via amniocentesis with CNV...

Read the complete abstract on PubMed

Topics

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

Share to Amniocentesis
Share to Autistic Disorder

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Deletion

Share to Chromosome Disorders

Share to Chromosome Duplication

Share to Chromosomes, Human, Pair 16

Share to Genetic Counseling

Share to Prenatal Diagnosis

Source

Identifiers

PMID: 42583927
DOI: 10.1097/YPG.0000000000000421

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Contrasting outcomes of 16p11.2 microdeletion and microduplication in prenatal diagnosis: phenotypic variability and genetic counseling strategies.PMID 42583927Read ↗

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

Molecular cytogenetic characterization of 16p11.2 microdeletions with diverse prenatal phenotypes: Four cases report and literature review.Semantic proximity Read ↗

[Prenatal ultrasound and genetic characteristics of 60 fetuses with 16p11.2 microdeletion].Semantic proximity Read ↗

16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-upSemantic proximity Read ↗

Prenatal Diagnosis of Chromosome 16p11.2 MicrodeletionSemantic proximity Read ↗

The Prenatal Diagnosis and Clinical Outcomes of Fetuses With 15q11.2 Copy Number Variants: A Case Series of 36 PatientsSemantic proximity Read ↗

The prenatal diagnosis and clinical outcomes of fetuses with 15q11.2 copy number variants: a case series of 36 patientsSemantic proximity Read ↗

Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype.Semantic proximity Read ↗

Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlationsSemantic proximity Read ↗

Prenatal phenotypes and pregnancy outcomes of fetuses with recurrent 16p13.11 microduplications.Semantic proximity Read ↗

Prenatal phenotypes and pregnancy outcomes of fetuses with 17p12 microdeletions and microduplications.Semantic proximity Read ↗

Diagnostic Value of Karyotyping, CMA/CNV-Seq, and WES in Fetuses with Thickened Nuchal Translucency: Perinatal and Two-Year Follow-Up OutcomesSemantic proximity Read ↗

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