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babies being born with a variety of problems, such as physical and/or learning disabilities. It is difficult to predict these as each inversion tends to be unique. Paracentric inversions This means that the inverted fragment is on one side of the centromere. The chance of having a baby born with problems (physical and/or learning disabilities) is very low compared to pericentric inversions. The chance of miscarriage is similarly increased due to missing or extra chromosome material in the sperm or eggs. counsellor or doctor will be happy to discuss any questions you may have about chromosome inversions. For more information What tests are available? • Blood test. Inversions can be detected with a simple blood test and the results take up to 6 weeks. • During Pregnancy. If you are a ‘carrier’ of an inversion you can have a test during pregnancy to detect if the baby has any extra or missing chromosome material. (See leaflet ‘Tests for you and your baby during pregnancy.’) This is a complicated subject and your genetic NHS Foundation Trust Clinical Genetics Unit www.bwhct.nhs.uk/geneticswmrcgshome.htm Birmingham Women’s NHS Foundation Trust is not responsible for the third-party information and does not endorse any product, view or process or opinion from such sources. Do inversions cause fertility problems? Not necessarily. Some studies have found that a small number of individuals with fertility problems have either peri or paracentric inversions. However, the chance of an inversion causing fertility problems is likely to be small. Birmingham Women's Chromosome Inversions An information leaflet for patients and families If you need more advice about any aspect of Chromosome Inversions please contact: Clinical Genetics Unit Birmingham Women’s NHS Foundation Trust Mindelsohn Way Edgbaston Birmingham B15 2TG Telephone: 0121 627 2630 Fax: 0121 627 2618 Email: [email protected] Reference Number: GG 22 Author: Peter Marks, Genetic Counsellor Reviewed: June 2014 Next review: June 2017 This is a no smoking hospital What is a chromosome inversion? A chromosome inversion is a rearrangement of one of the chromosomes (see below) that are found in the cells of our bodies. Chromosome inversions rarely cause any health problems but they can have implications for pregnancy and fertility. What are chromosomes? Chromosomes are microscopic packages of genetic information and are found in most cells in our bodies. genes on each chromosome. We normally have 46 chromosomes. These are arranged in 23 pairs: one of each pair is inherited from each parent. chromosome breaks in the middle of an important gene. This can cause different problems, depending on the particular gene(s) involved. What happens in a chromosome inversion? What are the effects on pregnancy and fertility? Occasionally, chromosomes break and rearrange themselves. In an inversion, a chromosome breaks in two places (see diagram, below). It is repaired but with the broken fragment having been ‘flipped round’, or inverted. This depends on the type of inversion involved. There are two types: A Break Cell DNA/Gene B C C B D D Inverted Section When the inversion involves the centromere it is called a pericentric inversion Break Normal Chromosome Inverted Chromosome Does this cause any health problems? This information is organized along the chromosomes in the form of genes. Genes instruct our bodies how to grow, function and develop. There are thousands of •Paracentric Centromere A Chromosome •Pericentric Not usually. Mostly, the body is still able to read the genes on the inverted piece of chromosome, even though it is ‘backwards’. Occasionally the When the inversion involves just one arm of the chromosome and NOT the centromere it is called a paracentric inversion Pericentric inversions This means that the ‘middle’ part of the chromosome called the centromere is involved. Pericentric inversions can lead to mistakes being made when the eggs or sperm are made. Some may get extra chromosome material and some may have missing chromosome material. This can lead to an increased chance of miscarriage (usually fairly early in pregnancy) or, less commonly,