September 10, 2025Frontiers in GeneticsOpen Access

Case Report: A rare chromosomal imbalance with dup 7q36.3-qter and del 7pter-p22.3 arising from parental pericentric inversion

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Chromosomal imbalances involving duplication and deletion of chromosome 7 present unique challenges in diagnosis and treatment.
Evidence shows that patients with 7q duplication and 7p deletion experience neurodevelopmental delay and facial dysmorphism.
Comprehensive genetic testing of family members reveals insights into the role of parental pericentric inversion in chromosomal abnormalities.
Genetic counseling is crucial for families with chromosomal abnormalities to improve disease management and understand potential risks.

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Case report identifies chromosomal abnormalities in a patient with neurodevelopmental delay, suggesting implications for genetic counseling.

Lin et al. (2025) studied this question.

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Case report identifies chromosomal abnormalities in a patient with neurodevelopmental delay, suggesting implications for genetic counseling.