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

Single-nucleotide polymorphism array-based characterization of ring chromosome 18.

The Journal of pediatrics - 1 Oct 2013

Spreiz Ana, Guilherme Roberta S, Castellan Claudio, Green Andrew, Rittinger Olaf, Wellek Brigitte, Utermann Barbara, Erdel Martin, Fauth Christine, Haberlandt Edda, Kim Chong A, Kulikowski Leslie D, Meloni Vera A, Utermann Gerd, Zschocke Johannes, Melaragno Maria I, Kotzot Dieter

Abstract excerpt

OBJECTIVE: To study genotype-phenotype correlation of ring chromosome 18 [r(18)] in 9 patients with 46,XN karyotype. STUDY DESIGN: In 9 patients with a de novo 46,XN,r(18) karyotype (7 females, 2 males), we performed high-resolution single-nucleotide polymorphism array analysis (Illumina Human Omni1-QuadV1 array in 6 patients, Affymetrix 6.0 array in 3 patients), investigation of parental origin, and...

Read the complete abstract on PubMed

Topics

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

Share to Body Size
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 18

Share to Karyotyping

Share to Maternal Age

Share to Oligonucleotide Array Sequence Analysis

Share to Ring Chromosomes

Source

Identifiers

PMID: 23876976
DOI: 10.1016/j.jpeds.2013.06.005

Genes

SHOX

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

Single-nucleotide polymorphism array-based characterization of ring chromosome 18.PMID 23876976Read ↗

Mosaic Ring Chromosome 18, Ring Chromosome 18 Duplication/Deletion and Disomy 18: Perinatal Findings and Molecular Cytogenetic Characterization by Fluorescence In Situ Hybridization and Array Comparative Genomic HybridizationSemantic proximity Read ↗

Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomaliesSemantic proximity Read ↗

Familial ring (18) mosaicism in a 23-year-old young adult with 46,XY,r(18) (::p11→q21::)/46,XY karyotype, intellectual disability, motor retardation and single maxillary incisor and in his phenotypically normal mother, karyotype 47,XX,+r(18)(::p11→q21::)/46,XX.Semantic proximity Read ↗

Clinical and genomic profiling of a patient with a de novo ring chromosome 18: A case report highlighting autoimmune and neurological implicationsSemantic proximity Read ↗

Breakpoints and deleted genes identification of ring chromosome 18 in a Chinese girl by whole-genome low-coverage sequencing: a case report study.Semantic proximity Read ↗

45,X/47,XX,+18 and ring (18) mosaicism with mild phenotypic features including normal stature: clinical report and review of the literature.Semantic proximity Read ↗

Molecular and clinical characterization of patients with a ring chromosome 11.Semantic proximity Read ↗

Chromosome 18 replaced by two ring chromosomes of chromosome 18 origin.Semantic proximity Read ↗

The genotype and phenotype of chromosome 18p deletion syndromeSemantic proximity Read ↗

[Comprehensive diagnosis and genetic analysis of two children with ring chromosome 18].Semantic proximity Read ↗

Ring 18 molecular assessment and clinical consequences.Semantic proximity Read ↗

Clinical outcome: a monosomy 18p is better than a tetrasomy 18p.Semantic proximity Read ↗

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