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Disease Profile

Trisomy 17 mosaicism

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Antenatal

ICD-10

Q92.1

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)

Chromosome 17 duplication; Trisomy 17; Chromosome 17 trisomy;

Categories

Chromosome Disorders; Congenital and Genetic Diseases

Summary

Trisomy 17 mosaicism is a chromosomal abnormality in which there are three copies of chromosome 17 in some cells of the body, rather than the usual two copies. Trisomy 17 mosaicism is one of the rarest trisomies in humans. It is often incorrectly called trisomy 17 (also referred to as full trisomy 17), which is when three copies of chromosome 17 are present in all cells of the body. Full trisomy 17 has never been reported in a living individual in the medical literature.[1] Few cases of trisomy 17 mosaicism have been described, most having been detected during pregnancy through a test called amniocentesis.[2] Only a few individuals have had a confirmed diagnosis of trisomy 17 mosaicism after birth. Because the proportion and location of cells with trisomy 17 differs from case to case, the presence and severity of signs and symptoms may vary significantly from person to person.

Symptoms

While trisomy 17 mosaicism is rare, there are a few cases that have been reported in the medical literature as well as a few reviews. Most cases of trisomy 17 mosaicism reported in the medical literature that were detected during pregnancy via chorionic villus sampling (CVS) or amniocentesis have not been confirmed in the baby after birth. In those cases, the babies appeared to be in good health at birth and it is suspected that in those cases, trisomy 17 was confined to extra-embryonic (placental) cells and tissues.[3][4]

Some cases of trisomy 17 mosaicism detected during pregnancy have been confirmed in the baby after birth. The symptoms reported include: developmental delays, body asymmetry, slow growth, and cerebellar hypoplasia. Again, signs and symptoms may vary in these individuals depending on which cells and how many cells contain an extra chromosome 17.[3][4]

Cause

Trisomy 17 mosaicism occurs due to a random event during the formation of the reproductive cells (egg and sperm) or after fertilization has taken place. An error in cell division (called nondisjunction) may cause some eggs or sperm to have an abnormal number of chromosomes. If an egg or sperm with an extra chromosome 17 contributes to the genetic makeup of an embryo, the embryo will have an extra copy of chromosome 17 in each cell. As the embryo grows and divides, an attempt may be made to correct the mistake by eliminating one extra chromosome 17. In individuals with trisomy 17 mosaicism, this attempt may be partly successful, leaving some cells with an extra chromosome 17 and some cells with the extra chromosome deleted (the usual chromosome number). This correction process is called trisomy rescue.

In other cases, the egg and sperm may have a normal number of chromosomes, but an error of cell division (nondisjunction) occurs when the fertilized egg is growing and dividing. If an error occurs during one of the divisions, it can cause some cells to have an abnormal number of chromosomes. In people affected by trisomy 17 mosaicism, some of the body's cells have the usual two copies of chromosome 17, and other cells have three copies of this chromosome (trisomy). The percentage of cells with trisomy 17 and which parts of the body are affected vary from person to person. This leads to variability in the range and severity of symptoms.

MedlinePlus, a resource through the National Library of Medicine, offers general information on mosaicism.

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

    • The National Human Genome Research Institute, part of the National Institutes of Health (NIH), has developed a fact sheet on chromosome abnormalities, which may be helpful to you. To read this information, visit the link.

      MedlinePlus, the National Library of Medicine Web site designed to direct you to information and resources that help you research your health questions, provides further information about chromosomes. Click on the link.

      In-Depth Information

      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Trisomy 17 mosaicism. Click on the link to view a sample search on this topic.

        References

        1. Hassold T. Mosaic trisomies in human spontaneous abortions. Hum Genet. 1982;
        2. Utermann B, Riegel M, Leistritz D, Karall T, Wisser J, Meisner L et al. Preand Postnatal Findings in Trisomy 17 Mosaicism. Am J Med Genet Part A. 2006;
        3. Robert D. Daber, Kimberly A. Chapman, Eduardo Ruchelli, Stefanie Kasperski, Surabhi Mulchandani, Brian D. Thiel, Hakon Hakonarson, Elaine H. Zackai, Laura K. Conlin, Nancy B. Spinner. Mosaic Trisomy 17: Variable Clinical and Cytogenetic Presentation. Am J Med Genet A. October 2011; 155A(10):2489-2495. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3197730/.
        4. Witters IW, Fryns J. Follow-up of a child with trisomy 17 mosaicism. Prenat Diagn. 2008;
        5. Robert L. Nussbaum, Roderick R. McInnes, Huntington F. Willard. Thompson & Thompson Genetics In Medicine. Philadelphia, PA: Saunders Elsevier; 2007; 7:75-95.

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