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

Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome.

European journal of human genetics : EJHG - 1 Dec 2016

van der Werf Ilse M, Buiting Karin, Czeschik Christina, Reyniers Edwin, Vandeweyer Geert, Vanhaesebrouck Piet, Lüdecke Hermann-Josef, Wieczorek Dagmar, Horsthemke Bernhard, Mortier Geert, Leroy Jules G, Kooy R Frank

Abstract excerpt

In approximately 20% of individuals with Kagami-Ogata syndrome (KOS14, MIM 608149), characterized by a bell-shaped thorax with coat-hanger configuration of the ribs, joint contractures, abdominal wall defects and polyhydramnios during the pregnancy, the syndrome is caused by a maternal deletion of the imprinted gene cluster in chromosome 14q32.2. Most deletions reported so far included one or both of the...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Disorders
Share to Chromosomes, Human, Pair 14

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pedigree

Share to Phenotype

Share to RNA, Untranslated

Share to Sequence Deletion

Share to Syndrome

Share to Uniparental Disomy

Source

Open in PubMed Open full text

Identifiers

PMID: 27406249
DOI: 10.1038/ejhg.2016.82
PMCID: PMC5117931

Genes

DLK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome.PMID 27406249Read ↗

Maternally inherited deletion encompassing the RTL1as and MEG8 genes of the human 14q32 imprinted region in a patient with a mild Kagami-Ogata syndrome phenotype.Semantic proximity Read ↗

Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region.Semantic proximity Read ↗

Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms.Semantic proximity Read ↗

Prenatal diagnosis of recurrent Kagami-Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review.Semantic proximity Read ↗

Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami–Ogata syndrome)Semantic proximity Read ↗

Adults with paternal UPD14 causing Kagami-Ogata syndrome: Case report and review of the literature.Semantic proximity Read ↗

Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.Semantic proximity Read ↗

Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype.Semantic proximity Read ↗

Paternal UPD14 with sSMC derived from chromosome 14 in Kagami-Ogata syndromeSemantic proximity Read ↗

Phenotype comparison confirms ZMYND11 as a critical gene for 10p15.3 microdeletion syndrome.Semantic proximity Read ↗

Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.Semantic proximity Read ↗

New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer.Semantic proximity Read ↗

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