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Disease Profile

Chromosome 19p deletion

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Deletion 19p; Monosomy 19p; 19p deletion;

Categories

Chromosome Disorders

Summary

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.

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

    • MedlinePlus Genetics contains information on Chromosome 19p deletion. This website is maintained by the National Library of Medicine.

      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.

        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.