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

Topics Community

Article

Prenatal Diagnosis, Ultrasound Findings, and Follow-Up Information of 1q21.1 Deletion and Duplication Syndromes: A Single-Center Case Series.

Fetal diagnosis and therapy - 1 Jan 2026

Luo Xiaojin, Chen Xiaohang, Tang Yanli, Liu Li, Xu Jinmao, Wu Liping, Pei Yuanyuan, Liu Weiqiang, Wei Fengxiang

Abstract excerpt

INTRODUCTION: The clinical phenotypes associated with 1q21.1 deletion or duplication syndromes vary considerably among individuals, and the underlying mechanisms remain poorly elucidated. Moreover, data on prenatal ultrasound findings in fetuses carrying these copy number variants are still limited. This study aimed to preliminarily evaluate the association between prenatal phenotypic features and 1q21.1...

Topics

Humans
Female
Ultrasonography, Prenatal
Pregnancy
Retrospective Studies
Chromosome Deletion
Chromosome Duplication
Chromosomes, Human, Pair 1
Adult
Chromosome Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Prenatal Diagnosis

Polymorphism, Single Nucleotide

Follow-Up Studies

Phenotype

Source

Identifiers

PMID: 41212816
DOI: 10.1159/000549222

Genes

BCL9
CHD1L
ACP6
FMO5
PRKAB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prenatal Diagnosis, Ultrasound Findings, and Follow-Up Information of 1q21.1 Deletion and Duplication Syndromes: A Single-Center Case Series.PMID 41212816Read ↗

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

Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study.Semantic proximity Read ↗

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

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

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

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

Contribution of rare copy number variants to isolated human malformations.Semantic proximity Read ↗

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

Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review.Semantic proximity Read ↗

Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: Molecular cytogenetic analysis, fetal pathology and review of the literatureSemantic proximity Read ↗

Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases.Semantic proximity Read ↗

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

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