A familial case of interstitial deletion of the short arm of chromosome 6p22.3-p24.3 in twins with severe delay in psychomotor and speech development

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A rare interstitial deletion in the region 6p22.3-p24.3 was identified in monozygotic twins with severe developmental delays.
The deletion measured 7.5 Mb and was confirmed using comparative genomic hybridization, indicating a de novo chromosomal rearrangement.
Phenotypic analysis showed distinct dysmorphic features in twins and challenges in establishing an accurate diagnosis due to variable deletions.
The study emphasizes the need for systematic approaches to diagnose complex genetic conditions associated with developmental delays.

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Analysis uncovers chromosomal deletion linked to developmental delays in monozygotic twins, suggesting complexity in diagnosis.

Moskvitin et al. (2025) studied this question.

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