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

Expanding the Neurological Phenotype of Ring Chromosome 10 Syndrome: A Case Report and Review of the Literature.

Genes - 26 Sept 2021

Pruccoli Jacopo, Graziano Claudio, Locatelli Chiara, Maltoni Lucia, Sheikh Maye Hodman Ahmed, Cordelli Duccio Maria

Abstract excerpt

Ring chromosome 10 [r(10)] syndrome is a rare genetic condition, currently described in the medical literature in a small number of case report studies. Typical clinical features include microcephaly, short stature, facial dysmorphisms, ophthalmologic abnormalities and genitourinary malformations. We report a novel case of r(10) syndrome and review the neurological and neuroradiological phenotypes of the...

Read the complete abstract on PubMed

Topics

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

Share to Intellectual Disability
Share to Cell Cycle Proteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chromosome Disorders

Share to Chromosomes, Human, Pair 10

Share to Co-Repressor Proteins

Share to Developmental Disabilities

Share to Ring Chromosomes

Share to Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 34680908
DOI: 10.3390/genes12101513
PMCID: PMC8535287

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

Expanding the Neurological Phenotype of Ring Chromosome 10 Syndrome: A Case Report and Review of the Literature.PMID 34680908Read ↗

New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature ReviewSemantic proximity Read ↗

Chromosome 8p Syndromes Clinical Presentation and Management Guidelines.Semantic proximity Read ↗

Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformationsSemantic proximity Read ↗

17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype.Semantic proximity Read ↗

Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families.Semantic proximity Read ↗

Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation.Semantic proximity Read ↗

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

Expanding the Clinical Phenotype of 19q Interstitial Deletions: A New Case with 19q13.32-q13.33 Deletion and Short Review of the Literature.Semantic proximity Read ↗

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.Semantic proximity Read ↗

Rubinstein-Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach.Semantic proximity Read ↗

Neurological phenotype of Potocki-Lupski syndrome.Semantic proximity Read ↗

SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay.Semantic proximity Read ↗

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