Published in IJCP October 2018
Chromosome 3p Duplication: A Rare Chromosomal Anomaly
October 04, 2018 | Braja Kishore Behera, Rishav Raj, Sailabala Shaw, Mitali Mahapatra

Partial trisomy 3p results from either unbalanced translocation or de novo duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was admitted to our hospital with complaints of repeated seizures and developmental retardation. On evaluation chromosome 3p duplication was detected.