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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

ABSTRACT: 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. 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.

ORGANISM(S): Homo sapiens

PROVIDER: GSE308222 | GEO | 2026/06/01

REPOSITORIES: GEO

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