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Chromosome 3, trisomy 3p

MedGen UID:
Concept ID:
Cell or Molecular Dysfunction
Synonyms: Duplication 3p; Trisomy 3p


Duplication of the short arm of chromosome 3 with severe delay in mental development, craniofacial dysmorphism, urogenital maldevelopment, and various occasional anomalies, including cardiac defects, cleft lip and palate, holoprosencephaly, dermatoglyphic findings, and other malformations. [from MCA/MR]

Recent clinical studies


Natera-de Benito D, García-Pérez MA, Martínez-Granero MÁ, Izquierdo-López L
Am J Med Genet A 2014 Feb;164A(2):548-50. Epub 2013 Dec 5 doi: 10.1002/ajmg.a.36164. PMID: 24311452
Rodovalho-Doriqui MJ, Freitas PL, Pinho JD, Cavalli LR, Pereira SR
Genet Mol Res 2013 Jul 24;12(3):2562-6. doi: 10.4238/2013.July.24.7. PMID: 23979887

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