Case report shows rare clinical features of chromosome 3p duplication in a newborn, suggesting important implications for diagnosis.
Partial trisomy 3p results from either unbalanced translocation or de novo duplication. Common clinical features consistof dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone andhypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, femalenewborn was admitted to our hospital with complaints of repeated seizures and developmental retardation. On evaluation,chromosome 3p duplication was detected.
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Behera et al. (2026) studied this question.
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