Published in IJCP
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.