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Diseases

Genetic and Rare Diseases Information Center (GARD)

Chromosome 19p deletion


Other Names for this Disease
  • Deletion 19p
  • Monosomy 19p
  • 19p deletion
  • 19p monosomy
  • Partial monosomy 19p
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Chromosome 19p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 19. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 19p deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features.[1][2] Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person.

This page is meant to provide general information about 19p deletions. You can contact GARD if you have questions about a specific deletion on chromosome 19. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.
Last updated: 3/17/2016

References

  1. Schwemmle C, Rost I, Spranger S, Jungheim M, Ptok M. A boy with mild mental retardation, mild sensorineural hearing loss and mild facial dysmorphism caused by a 19p13.2 deletion: a case report and review of the literature. Int J Pediatr Otorhinolaryngol. July 2014; 78(7):1190-1193.
  2. Aten E, den Hollander N, Ruivenkamp C, Knijnenburg J, van Bokhoven H, den Dunnen J, Breuning M. Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity?. Am J Med Genet A. May 2009; 149A(5):975-981.
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Basic Information

In Depth Information

  • PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 19p deletion. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Deletion 19p
  • Monosomy 19p
  • 19p deletion
  • 19p monosomy
  • Partial monosomy 19p
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.