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Chromosome 4q deletion


Other Names for this Disease
  • 4q deletion
  • 4q monosomy
  • Deletion 4q
  • Monosomy 4q
  • Partial monosomy 4q
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Overview

Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion include distinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature.[1][2] Most cases are not inherited, although affected people can pass the deletion on to their children.[3][4] Treatment is based on the signs and symptoms present in each person.[5]
Last updated: 3/5/2015

References

  1. Strehle EM, Bantock HM.. The phenotype of patients with 4q-syndrome. Genet Couns. 2003; 14(2):195-205.
  2. Markiewicz MR, Verschueren D, Assael LA. Chromosome 4q deletion syndrome: craniofacial characteristics associated with monosomy of the long arm of chromosome 4q. Cleft Palate Craniofac J. September 2010; 47(5):518-522.
  3. Strehle EM, Yu L, Rosenfeld JA, Donkervoort S, Zhou Y, Chen TJ, Martinez JE, Fan YS, Barbouth D, Zhu H, Vaglio A, Smith R, Stevens CA, Curry CJ, Ladda RL, Fan ZJ, Fox JE, Martin JA, Abdel-Hamid HZ, McCracken EA, McGillivray BC, Masser-Frye D, Huang T. Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region. Am J Med Genet A. September 2012; 158A(9):2139-2151.
  4. Xu W, Ahmad A, Dagenais S, Iyer RK, Innis JW. Chromosome 4q deletion syndrome: narrowing the cardiovascular critical region to 4q32.2-q34.3. Am J Med Genet A. March 2012; 158A(3):635-640.
  5. Chromosome 4, Monosomy 4q. NORD. August 2007; http://rarediseases.org/rare-disease-information/rare-diseases/byID/793/viewAbstract.
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Basic Information

In Depth Information

  • PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 4q deletion. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • 4q deletion
  • 4q monosomy
  • Deletion 4q
  • Monosomy 4q
  • Partial monosomy 4q
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.