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

Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.

Human mutation - 1 May 2007

Giorda Roberto, Ciccone Roberto, Gimelli Giorgio, Pramparo Tiziano, Beri Silvana, Bonaglia Maria Clara, Giglio Sabrina, Genuardi Maurizio, Argente Jesùs, Rocchi Mariano, Zuffardi Orsetta

Abstract excerpt

We describe a new type of rearrangement consisting of the duplication of 8p23.1 and the triplication of 8p23.2 [dup trp(8p)] in two patients affected by mental retardation and minor facial dysmorphisms. Array-comparative genomic hybridization (CGH), fluorescence in situ hybridization (FISH), and genotyping of polymorphic loci allowed us to demonstrate that this rearrangement is mediated by the combined effects of...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Aberrations
Share to Chromosomes, Human, Pair 8

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Connectin

Share to Gene Rearrangement

Share to Genetic Carrier Screening

Share to In Situ Hybridization, Fluorescence

Share to Muscle Proteins

Share to Recombination, Genetic

Source

Identifiers

PMID: 17262805
DOI: 10.1002/humu.20465

Genes

MYOM2

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

Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.PMID 17262805Read ↗

Inverted duplication deletion of 8P: characterization by standard cytogenetic and SNP array analyses.Semantic proximity Read ↗

Molecular characterization of inv dup del(8p): analysis of five cases.Semantic proximity Read ↗

Inverted low-copy repeats and genome instability--a genome-wide analysis.Semantic proximity Read ↗

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.Semantic proximity Read ↗

A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1.Semantic proximity Read ↗

A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsySemantic proximity Read ↗

Different Types of Deletions Created by Low-Copy Repeats Sequences Location in 22q11.2 Deletion Syndrome: Genotype–Phenotype CorrelationSemantic proximity Read ↗

Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.Semantic proximity Read ↗

Origins and breakpoint analyses of copy number variations: up close and personal.Semantic proximity Read ↗

Inverted duplication of 8p: Ten new patients and review of the literatureSemantic proximity Read ↗

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.Semantic proximity Read ↗

Dissecting the structure and mechanism of a complex duplication-triplication rearrangement in the DMD gene.Semantic proximity Read ↗

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