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

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

American journal of medical genetics. Part A - 1 Mar 2015

Jedraszak Guillaume, Demeer Bénédicte, Mathieu-Dramard Michèle, Andrieux Joris, Receveur Aline, Weber Astrid, Maye Una, Foulds Nicola, Temple I K, Crolla John, Alex-Cordier Marie-Pierre, Sanlaville Damien, Ewans Lisa, Wilson Meredith, Armstrong Ruth, Clarkson Amanda, Copin Henri, Morin Gilles

Abstract excerpt

Interstitial microdeletions of 20q chromosome are rare, only 17 patients have been reported in the literature to date. Among them, only six carried a proximal 20q11.21-q11.23 deletion, with a size ranging from 2.6 to 6.8 Mb. The existence of a 20q11.2 microdeletion syndrome has been proposed, based on five previously reported cases that displayed anomalies of the extremities, intellectual disability, feeding...

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 Chromosome Aberrations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Breakpoints

Share to Chromosome Deletion

Share to Chromosomes, Human, Pair 20

Share to Comparative Genomic Hybridization

Share to Facies

Share to Karyotyping

Source

Identifiers

PMID: 25572454
DOI: 10.1002/ajmg.a.36882

Genes

GDF5

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

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients.PMID 25572454Read ↗

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 ↗

[20q11.2 microdeletion syndrome: a phenotypic spectrum expansion. Case report].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 ↗

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 ↗

1q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndrome.Semantic proximity Read ↗

A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech.Semantic proximity Read ↗

A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33.Semantic proximity Read ↗

8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature.Semantic proximity Read ↗

Chromosome 22q11.2 Microduplication Syndrome: A Review of the Literature and 12 New Cases.Semantic proximity Read ↗

Further defining the critical genes for the 4q21 microdeletion disorder.Semantic proximity Read ↗

Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay.Semantic proximity Read ↗

Expanding the spectrum of microdeletion 4q21 syndrome: a partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and Pierre Robin sequence.Semantic proximity Read ↗

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