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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Chromosome 3p duplication


Other Names for this Disease
  • 3p duplication
  • 3p trisomy
  • Duplication 3p
  • Partial trisomy 3p
  • Trisomy 3p
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Symptoms

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What are the signs and symptoms of chromosome 3p duplication?

The signs and symptoms of chromosome 3p duplication vary but may include:[1][2]
  • Developmental delay
  • Intellectual disability
  • Hypotonia (poor muscle tone)
  • Cleft lip and palate
  • Behavioral problems
  • Short stature
  • Microcephaly (unusually small head)
  • Gastrointestinal abnormalities
  • Seizures
  • Congenital heart defects
  • Distinctive facial features (i.e. wide-spaced eyes, full cheeks, depressed nasal bridge, etc)
  • Genital abnormalities
Last updated: 5/18/2015

References
  1. Han DH, Chang JY, Lee WI, Bae CW. A case of partial trisomy 3p syndrome with rare clinical manifestations. Korean J Pediatr. March 2012; 55(3):107-110.
  2. Natera-de Benito D, García-Pérez MA, Martínez-Granero MÁ, Izquierdo-López L.. A patient with a duplication of chromosome 3p (p24.1p26.2): a comparison with other partial 3p trisomies. Am J Med Genet A. 2014 Feb;164A(2):548-50. February 2014; 164A(2):548-550.


Other Names for this Disease
  • 3p duplication
  • 3p trisomy
  • Duplication 3p
  • Partial trisomy 3p
  • Trisomy 3p
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.