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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 3, trisomy 3p?

There have been various signs and symptoms reported in individuals with trisomy 3p. The main features may include hypotonia (decreased muscle tone), intellectual disabilities, low birth weight, square-shaped face with microcephaly (abnormally small head), brachycephaly (broad-shaped head), frontal bossing (prominent forehead), temporal indentation, epicanthal folds, and hypertelorism (wide-spaced eyes) and/or telecanthus. The nose may be short with a large tip and prominent philtrum. The lips may be everted and the corners of the mouth may be down-turned. Cleft lip and/or palate are frequently present, and anomalies of the auricles (external ears) are common. A small, receding jaw (micrognathia and/or retrognathia) and short neck are typical. Congenital heart disease, most commonly septal defects, are frequent as well as genitourinary abnormalities. Cryptorchidism (undescended testes) and incomplete masculinization of the external genitalia may be present in males. Camptodactyly and minor limb anomalies may be present. Dermatoglyphics (scientific study of fingerprints) show a very high number of whorls. The mortality rate has reportedly been high (close to 50%); however, a large portion of the reported cases occurred several or more years ago, and advances in medical technology may have decreased the reported mortality rates. Although the reported cases in the literature have varied in terms of the amount of extra material present in each individual, the developmental defects and congenital malformations present have been fairly constant.[1]
Last updated: 5/25/2011

References
  1. Joel Charrow, Maimon M. Cohen, and Diana Meeker. Duplication 3p Syndrome: Report of a New Case and Review of the Literature. American Journal of Medical Genetics. 1981; 8:431-436.