Chromosome 3p Duplication: A Rare Chromosomal Anomaly

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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Published
2026-02-03
DOI
https://doi.org/10.59793/x5y5f619
Primary Topic
Genomic variations and chromosomal abnormalities
Type
article
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article

Chromosome 3p Duplication: A Rare Chromosomal Anomaly

Mitali Mahapatra, Braja Kishore Behera, Sailabala Shaw, Dr RISHAV RAJ
Genomic variations and chromosomal abnormalities
article

Chromosome 3p Duplication: A Rare Chromosomal Anomaly

Mitali Mahapatra, Braja Kishore Behera, Sailabala Shaw, Dr RISHAV RAJ
article en

Abstract

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.

Graduate Hospital (US), Post Graduate Medical Institute (PK), Berhampur University (IN)
Good health and well-being, Gender equality
Openalex Percentile: Top 64%
Genomic variations and chromosomal abnormalities
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