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Article

Identification of a 21q22 duplication in a Silver-Russell syndrome patient further narrows down the Down syndrome critical region.

American journal of medical genetics. Part A - 1 Feb 2010

Eggermann Thomas, Schönherr Nadine, Spengler Sabrina, Jäger Susanne, Denecke Bernd, Binder Gerhard, Baudis Michael

Abstract excerpt

Several duplications of chromosome 21q helped to narrow down the Down syndrome (DS) critical region (DSCR) to chromosomal band 21q22 with an approximate length of 5.4 Mb. Recently, it has been suggested that the facial gestalt of DS has been linked to the distal part of the DSCR whereas the proxi...

Read the complete abstract on PubMed

Topics

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Share to Chromosome Banding
Share to Chromosomes, Human, Pair 21
Share to Down Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Duplication

Share to KCNQ1 Potassium Channel

Share to Muscle Proteins

Share to Potassium Channels, Voltage-Gated

Share to Silver-Russell Syndrome

Source

Identifiers

PMID: 20101688
DOI: 10.1002/ajmg.a.33217

Genes

DSCAM
KCNQ1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20101688-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a 21q22 duplication in a Silver-Russell syndrome patient further narrows down the Down syndrome critical region.PMID 20101688Read ↗

Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6.Semantic proximity Read ↗

Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype.Semantic proximity Read ↗

Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association.Semantic proximity Read ↗

Partial trisomy 21 with or without highly restricted-Down syndrome critical region (HR- DSCR). Report of two new cases and reanalysis of the genotype-phenotype associationSemantic proximity Read ↗

Two cases of partial trisomy 21 (pter-q22.1) without the major features of Down syndrome.Semantic proximity Read ↗

Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical regionSemantic proximity Read ↗

Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21Semantic proximity Read ↗

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.Semantic proximity Read ↗

A new inward rectifier potassium channel gene (KCNJ15) localized on chromosome 21 in the Down syndrome chromosome region 1 (DCR1).Semantic proximity Read ↗

Two key genes closely implicated with the neuropathological characteristics in Down syndrome: DYRK1A and RCAN1Semantic proximity Read ↗

Down syndrome: toward a molecular definition of the phenotype.Semantic proximity Read ↗

A chromosome 21 critical region does not cause specific Down syndrome phenotypes.Semantic proximity Read ↗

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