National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Chromosome 9 inversion

Not a rare disease Not a rare disease
Other Names:
Inversion 9
Categories:
Chromosomes are the structures found in every cell of the body that contain our DNA, the instructions that tell our body what to do. Humans have 23 pairs of chromosomes, which means that each human cell contains 46 chromosomes. Each chromosome has a p and q arm; p is the short arm and q is the long arm. The p arm is always on the top and the q arm is on the bottom.[1]

An inversion occurs when there are two breaks in one chromosome. The segment between the breakpoints flips around and reinserts back into the chromosome. Genetic material may of may not be lost as a result of the chromosome breaks. If both breaks occur in the same arm of the chromosome, this is called a paracentric inversion. If one break occurs in the short arm and the other in the long arm of the chromosome, then this is called a pericentric inversion.[2] 

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 congenital anomalies, growth retardation, infertility, recurrent pregnancy loss, and cancer.[3][4][5]  
Last updated: 5/24/2017

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  1. Chromosome Abnormalities. National Human Genome Research Institute Web site. January 6, 2016; http://www.genome.gov/11508982#6.
  2. 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.
  3. 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/.
  4. 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/.
  5. 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/.