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November 30, 2025Frontiers in GeneticsOpen Access

Case Report: developmental delay and intellectual disability linked to a maternally inherited derivative chromosome 3 from a t(3;8) translocation

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Case report reveals chromosomal abnormalities affecting neurodevelopment in siblings, indicating genetic counseling is vital.

Intellectual disability and developmental delay were observed in two half-siblings with a derivative chromosome 3.
Genetic testing revealed a deletion impacting cognitive impairment and a duplication affecting neurodevelopmental genes.
Case analysis utilized chromosomal microarray and genome sequencing to identify complex chromosomal rearrangements.
Findings emphasize the role of gene dosage effects in neurodevelopmental disease and the need for early intervention.

León et al. (2025) studied this question.

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