Case report describes severe endocrinopathy and neurodevelopmental delays in a patient with jacobsen syndrome, indicating the need for genetic evaluations.
Jacobsen syndrome is a rare 11q deletion disorder with multisystem involvement. This case highlights a complex unbalanced 11;15 translocation, olfactory bulb agenesis, extensive white matter abnormalities, and severe endocrinopathies, emphasizing the need for comprehensive genetic and neuroimaging evaluations.
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Al‐Badri et al. (2025) studied this question.
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