What question did this study set out to answer?

This research aims to describe a novel chromosomal rearrangement involving a 11p duplication and 11q deletion in a child with severe neonatal encephalopathy.

February 8, 2026

A case with a de novo chromosome 8.9 Mb 11pter duplication and 6.4 Mb 11qter deletion derived from a father with a normal karyotype.

Key Points

This research aims to describe a novel chromosomal rearrangement involving a 11p duplication and 11q deletion in a child with severe neonatal encephalopathy.
Whole-exome sequencing (WES) was conducted to identify candidate genes.
Trio comparative genomic hybridization (CMA) and fluorescence in situ hybridization (FISH) confirmed chromosomal anomalies.
SNP analysis determined the paternal origin of the duplicated segment.
Confirmed a de novo 8.9 Mb duplication of 11p15.4p15.5 and a 6.4 Mb deletion of 11q24.3q25.
Neonatal encephalopathy showed gradual improvement over time.
Thrombocytopenia resolved, while facial puffiness persisted and developmental delay continued.

Abstract

WES did not show a candidate gene/diagnosis. Trio-CMA and FISH confirmed a de novo 8.9 Mb duplication of 11p15.4p15.5 and a 6.4 Mb deletion of 11q24.3q25 in the child, and that the duplicated 11p was of paternal origin, based on the SNPs analysis. On long-term follow-up, encephalopathy improved gradually, thrombocytopenia resolved, facial puffiness persisted, and developmental delay remained. The present patient represents the first case of de novo 11p duplication with 11q deletion and severe neonatal encephalopathy. The de novo chromosomal rearrangement could still have resulted from nonallelic homologous recombination, triggered by low-copy repeats (LCRs) at distal 11p and 11q during paternal meiosis, despite the lower LCR density. Alternatively, it may represent a random event, as it does not involve the recurrent deletion/duplication typically observed in regions with dense LCRs.

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