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

Genetic analysis of partial duplication of the long arm of chromosome 16.

BMC medical genomics - 23 Dec 2024

Tang Dan, Chen Ai, Xu Jing, Huang Yu, Fan Jun, Wang Jin, Zhu Hui, Pi Guanghuan, Yang Li, Xiong Fu, Luo Zemin, Li Gen, Zeng Lan, Zhu Shuyao

Abstract excerpt

BACKGROUND: Pure partial trisomy 16q12.1q22.1 is a rare chromosome copy number variant (CNV). The primary clinical phenotypes associated with this syndrome include abnormal facial morphology, global developmental delay (GDD), short stature, and reported predisposing factors for atypical behavior, autism, the development of learning disabilities, and neuropsychiatric disorders. The dosage-sensitive genes...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Chromosome Duplication

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 16

Share to Developmental Disabilities

Share to DNA Copy Number Variations

Share to Genetic Association Studies

Share to Karyotyping

Share to Trisomy

Source

Open in PubMed Open full text

Identifiers

PMID: 39716170
DOI: 10.1186/s12920-024-02059-3
PMCID: PMC11667835

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

Genetic analysis of partial duplication of the long arm of chromosome 16.PMID 39716170Read ↗

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 ↗

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

Clinical Insights into the Neurodevelopmental Impact of 16p CNVs in an Italian Clinical Cohort.Semantic proximity Read ↗

The Phenotypic Spectrum of 16p11.2 Recurrent Chromosomal Rearrangements.Semantic proximity Read ↗

Phenotypes Associated with 16p11.2 Copy Number Gains and Losses at a Single Institution.Semantic proximity Read ↗

Refining the Phenotype of Recurrent Rearrangements of Chromosome 16Semantic proximity Read ↗

16p11.2 Duplication Syndrome - a Case Report.Semantic proximity Read ↗

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

A clinical study of patients with pericentromeric deletion and duplication within 16p12.2-p11.2.Semantic proximity Read ↗

16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.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 ↗

Clinical outcomes of fetuses with chromosome 16 short arm copy number variantsSemantic proximity Read ↗

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