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

Duplication 18q21.31-q22.2.

American journal of medical genetics. Part A - 15 Feb 2007

Ceccarini Caterina, Sinibaldi Lorenzo, Bernardini Laura, De Simone Roberto, Mingarelli Rita, Novelli Antonio, Dallapiccola Bruno

Abstract excerpt

We report on three siblings with mild mental retardation and minor dysmorphic features carrying an interstitial duplication of the long arm of chromosome 18 inherited from a healthy mosaic carrier mother. The duplicated region spanned between 18q21.31 and 18q22.2 for about 12 Mb. The distal duplications of 18q are rare and only a small number of subjects, manifesting quite different clinical outcomes, have been...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Aneuploidy
Share to Chromosomes, Human, Pair 18

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

Share to Cytogenetic Analysis

Share to Fingers

Share to Siblings

Share to Strabismus

Share to Syndactyly

Source

Identifiers

PMID: 17256793
DOI: 10.1002/ajmg.a.31588

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Duplication 18q21.31-q22.2.PMID 17256793Read ↗

Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndromeSemantic proximity Read ↗

Inherited duplication of the short arm of chromosome 18p11.32–p11.31 associated with developmental delay/intellectual disabilitySemantic proximity Read ↗

Duplication of 18q21.32-q22.3 identified in a stillborn and two relatives with minimal dysmorphic features.Semantic proximity Read ↗

Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation.Semantic proximity Read ↗

Deletion of chromosome region 18q21.1 --> 18q21.3 in a patient without clinical features of the 18q- phenotype.Semantic proximity Read ↗

Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype.Semantic proximity Read ↗

Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy.Semantic proximity Read ↗

Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability.Semantic proximity Read ↗

Recurrent proximal 18p monosomy and 18q trisomy in a family due to a pericentric inversion.Semantic proximity Read ↗

18q deletions: clinical, molecular, and brain MRI findings of 14 individuals.Semantic proximity Read ↗

A review of 18p deletions.Semantic proximity Read ↗

50 Years Ago in TheJournalofPediatrics: An Update on the Phenotypic Map of 18q Deletions.Semantic proximity Read ↗

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