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Disease Profile
Chromosome 9 inversion
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.
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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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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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Other names (AKA)
Inversion 9
Categories
Chromosome Disorders
Summary
An inversion occurs when there are two breaks in one chromosome. The segment between the breakpoints flips around and reinserts back into the chromosome.
Chromosome 9 inversion is one of the most common structural balanced chromosomal variants, with an estimated incidence of about 3.5 percent.[3] It remains unclear, however, if these rearrangements have clinical significance.[3][4] In some cases, it has been associated with
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
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Chromosome Disorder Outreach (CDO)
PO Box 724
Boca Raton, FL 33429
Telephone: +1-561-395-4252
E-mail: https://chromodisorder.org/contact/
Website: https://chromodisorder.org/ -
Unique – Rare Chromosome Disorder Support Group
G1, The Stables
Station Road West
Surrey
RH8 9EE
United Kingdom
Telephone: +44 (0)1883 723356
E-mail: [email protected]
Website: https://www.rarechromo.org/
References
- Chromosome Abnormalities. National Human Genome Research Institute Web site. January 6, 2016; https://www.genome.gov/11508982#6.
- Can changes in the structure of chromosomes affect health and development?. Genetics Home Reference (GHR). https://ghr.nlm.nih.gov/primer/mutationsanddisorders/structuralchanges. Accessed 5/24/2017.
- Jeong S-Y, Kim B-Y, Yu JE. De Novo Pericentric Inversion of Chromosome 9 in Congenital Anomaly. Yonsei Med J. 2010; 51(5):775-780. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2908878/.
- Muthuvel A, Ravindran M, Chander A, Subbian C. Pericentric inversion of chromosome 9 causing infertility and subsequent successful in vitro fertilization. Nigerian Medical Journal?: Journal of the Nigeria Medical Association. 2016; 57(2):142-144. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4872494/.
- Dana M, Stoian V. Association of Pericentric Inversion of Chromosome 9 and Infertility in Romanian Population. Maedica (Buchar). 2012; 7(1):25-29. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3484792/.