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

Pure Trisomy 2p Syndrome in Two Siblings with an Unbalanced Translocation and Minimal Terminal 12q Monosomy Characterized by High-Density Microarray

1 Jan 2014

Abstract excerpt

Pure partial trisomy 2p patients have rarely been reported. Oligonucleotide array analysis has proved to be important for examining 2p rearrangements to delineate the involved segment and to rule out additional imbalances modifying the phenotype. Here, we report 2 siblings with an unbalanced translocation that led to a partial trisomy 2p (p22.3pter) and a terminal deletion of 12q (q24.33qter). This finding was...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomal and Genetic Variations
Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

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

Source

Identifiers

PMID: 24751616
DOI: 10.1159/000362141

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pure Trisomy 2p Syndrome in Two Siblings with an Unbalanced Translocation and Minimal Terminal 12q Monosomy Characterized by High-Density MicroarrayPMID 24751616Read ↗

Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome.Semantic proximity Read ↗

Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism.Semantic proximity Read ↗

A complex medical phenotype in a patient with triplication of 2q12.3 to 2q13 characterized with oligonucleotide array CGH.Semantic proximity Read ↗

A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology.Semantic proximity Read ↗

High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome.Semantic proximity Read ↗

Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boy.Semantic proximity Read ↗

A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia.Semantic proximity Read ↗

Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case reportSemantic proximity Read ↗

Ring 2 chromosome associated with failure to thrive, microcephaly and dysmorphic facial features.Semantic proximity Read ↗

Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 MicroduplicationsSemantic proximity Read ↗

Constitutional 560.49 kb chromosome 2p24.3 duplication including the MYCN gene identified by SNP chromosome microarray analysis in a child with multiple congenital anomalies and bilateral Wilms tumor.Semantic proximity Read ↗

Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1.Semantic proximity Read ↗

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