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

Trisomy 20q caused by interstitial duplication 20q13.2: Clinical report and literature review

2 Apr 2008

Abstract excerpt

We report on a 3-year-old boy with moderate developmental delay, abnormal craniofacial features and ventricular septal defect resulting from trisomy of the long arm of chromosome 20. The cytogenetic defect consists of a de novo isolated interstitial duplication in distal 20q [dup(20)(q13.2q13.2)]. The duplication was detected by comparative genomic hybridization (CGH) and confirmed by array CGH. Other cases of...

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: 18384146
DOI: 10.1002/ajmg.a.32278

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 20 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

Trisomy 20q caused by interstitial duplication 20q13.2: Clinical report and literature reviewPMID 18384146Read ↗

De novo trisomy 20p characterized by array comparative genomic hybridization: report of a novel case and review of the literature.Semantic proximity Read ↗

Interstitial duplication of 20q11.22q13.11: A case report and review of literature.Semantic proximity Read ↗

Interstitial del(20)(q11.2q12) - clinical and molecular cytogenetic characterization.Semantic proximity Read ↗

Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.Semantic proximity Read ↗

The smallest de novo deletion of 20q11.21-q11.23 in a girl with feeding problems, retinal dysplasia, and skeletal abnormalities.Semantic proximity Read ↗

Trisomy 20q13 --> 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): clinical report and review of the trisomy 20q phenotype.Semantic proximity Read ↗

20p chromosome inverted duplication syndrome with phenotypes of congenital heart disease, anorectal malformation and megacolon.Semantic proximity Read ↗

A de novo deletion of 20q11.2-q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty.Semantic proximity Read ↗

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients.Semantic proximity Read ↗

Duplication of 20qter and deletion of 20pter due to paternal pericentric inversion: patient report and review of 20qter duplications.Semantic proximity Read ↗

7q35q36.3 Deletion and Concomitant 20q13.2q13.33 Duplication in a Newborn: Familiar CaseSemantic proximity Read ↗

A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay.Semantic proximity Read ↗

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