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 detection of 10q22q23 duplications: dilemmas in phenotype prediction.

Prenatal diagnosis - 1 Dec 2016

Kong Grace Wing Shan, Cao Ye, Huang Jin, Cheng Kwun Yue, Pursley Amber Nolen, Rosenfeld Jill Anne, Edwards Janice G, Chan Yiu Man, Cheung Sau Wai, Leung Tak Yeung, Choy Kwong Wai

Abstract excerpt

OBJECTIVES: The phenotype for 10q22q23 duplication is diverse, ranging from intellectual disability and dysmorphism to normal development. Interpreting the clinical significance of the duplication identified in this region is difficult, especially in the prenatal setting. This study aimed to characterize the prenatal findings associated with this submicroscopic imbalance and discuss the dilemmas in predicting the...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Duplication
Share to Chromosomes, Human, Pair 10

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Congenital Abnormalities

Share to Developmental Disabilities

Share to Diseases in Twins

Share to Fetal Growth Retardation

Share to Microarray Analysis

Share to Ultrasonography, Prenatal

Source

Identifiers

PMID: 27859473
DOI: 10.1002/pd.4959

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prenatal detection of 10q22q23 duplications: dilemmas in phenotype prediction.PMID 27859473Read ↗

Prenatal and postnatal diagnoses and phenotype of 8p23.3p22 duplication in one family.Semantic proximity Read ↗

Phenotypic heterogeneity of Duplication Syndrome 22q11.2: relevance of genomic DNA analysisSemantic proximity Read ↗

Prenatal and Postnatal Diagnosis and Phenotype of 8p23.2p22 Duplication in One FamilySemantic proximity Read ↗

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

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

Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experienceSemantic proximity Read ↗

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

Chromosome 22q11.2 Microduplication Syndrome: A Review of the Literature and 12 New Cases.Semantic proximity Read ↗

Expanding the phenotype associated with 17q12 duplication: case report and review of the literature.Semantic proximity Read ↗

Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23.Semantic proximity Read ↗

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

Prenatal diagnosis and genetic counseling of a de novo 10q11.21q11.23 duplication associated with a normal phenotype.Semantic proximity Read ↗

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