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

Distal duplication of chromosome 16q22.1q23.1 in a Vietnamese patient with midface hypoplasia and intellectual disability.

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

Nguyen Huy Hoang, Pham Van Anh, Barcia Giulia, Malan Valérie, Nguyen Kiem Lien Thi, Ngo Diem Ngoc, Nguyen Thu Hien, Landrieu Pierre, Colleaux Laurence, Nong Van Hai, Nguyen Lam Son

Abstract excerpt

The clinical presentation of distal duplications of the long arm of chromosome (chr) 16 is currently not well described. Only one case of microduplication of chr16q22.1 and another involving the chr16q22.1q23.1 region have been reported so far. Here, using array comparative genomic hybridization, we identified a second case of chr16q22.1q23.1 duplication in a Vietnamese boy, who shares significant clinical...

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 1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 16

Share to Comparative Genomic Hybridization

Share to Craniofacial Abnormalities

Share to Facies

Share to Intellectual Disability

Share to Vietnam

Source

Identifiers

PMID: 30178921
DOI: 10.1002/ajmg.a.40375

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Distal duplication of chromosome 16q22.1q23.1 in a Vietnamese patient with midface hypoplasia and intellectual disability.PMID 30178921Read ↗

Novel duplication on chromosome 16 (q12.1-q21) associated with behavioral disorder, mild cognitive impairment, speech delay, and dysmorphic features: case report.Semantic proximity Read ↗

Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22Semantic proximity Read ↗

Phenotypic manifestations of copy number variation in chromosome 16p13.11.Semantic proximity Read ↗

Novel findings, mini-review and dysmorphological characterization of 16p13.11 microduplication syndrome.Semantic proximity Read ↗

Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature.Semantic proximity Read ↗

Intellectual disability secondary to a 16p13 duplication in a 1;16 translocation. Extended phenotype in a four-generation family.Semantic proximity Read ↗

Microduplication of 4p16.3 due to an unbalanced translocation resulting in a mild phenotype.Semantic proximity Read ↗

Clinical Features of de novo Pure 16q21q24.1 Chromosome Duplication.Semantic proximity Read ↗

Genetic analysis of partial duplication of the long arm of chromosome 16.Semantic proximity Read ↗

The first patient with tandem duplication of 6q14q16: Molecular and phenotypic characterization.Semantic proximity Read ↗

Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation.Semantic proximity Read ↗

A novel human DNA polymorphism resulting from transfer of DNA from chromosome 6 to chromosome 16.Semantic proximity Read ↗

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