Text · study · 2026
Distal 4q Duplication and Extended 10q Deletion in a Preterm Infant with Severe Growth Restriction and Obesity: Disruption of Epithelial-Mesenchymal Cross-Talk and Metabolic Regulation Revealed by Gene Expression Profiling
Listed in NCBI GEO
We describe a male preterm infant (28+6 weeks gestation) with a paternally inherited unbalanced translocation t(4;10)(q31.1;q26.1), resulting in a 48.46 Mb duplication of 4q31.22q35.5 and a 10.77 Mb deletion of 10q26.13q26.3.
Description
The patient exhibited characteristic features associated with distal 4q duplication and distal 10q deletion, including severe growth restriction, early-onset obesity, delayed neurodevelopment, and a giant umbilical hernia - but notably lacked renal or thumb anomalies.
Links
Get the data
- GEO FTP directory ftp.ncbi.nlm.nih.gov/geo/series/GSE308nnn/GSE308222 ↗
download · from NCBI GEO
Where it is published
- GEO accession page ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE308222 ↗
landing page · from NCBI GEO
Documentation and papers
- PRJNA1329253 ncbi.nlm.nih.gov/bioproject/PRJNA1329253 ↗
project · from NCBI GEO
- PubMed 42395604 pubmed.ncbi.nlm.nih.gov/42395604 ↗
publication · from NCBI GEO
Topics
- Stated by source
- Expression profiling by array · Homo sapiens
- From keywords
- Life Sciences
Provenance · 1 source records, 7 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| NCBI GEO | GSE308222 | 12 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[method].geo_series_type:expression-profiling-by-array | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /gdstype |
| concepts[organism].NCBITaxon:9606 | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /taxon |
| description | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /summary |
| publication_date | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| title | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /title |