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Thursday, April 24, 2014
Inherited Disorders and Birth Defects
Paracentric Inversion of Chromozone 14
What is paracentric inversion of chromozone 14?
What might be the presenting difficulties in a 6 year old boy?
An inversion happens when a chromosome breaks in two places and the area between the two breaks is inverted (turned around), and then reinserted. The breaks then unite to the rest of the chromosome.
Each chromosome has a p arm - the short arm and a q arm - the long arm. In between the p arm and q arm is the center or centromere. A paracentric inversion is an inversion that happens in either the short arm or the long arm, but does not include the centromere (the center of the chromosome).
If some of the chromosomal material is lost or duplicated when the chromosomes breaks and the inversion took place - then there is extra and / or missing information that can lead to birth defects and cognitive problems such as learning disabilities and mental retardation.
The specific types of problems or birth defects would depend on the specific areas of the chromosome that was involved what specific genes are located at these sites. For many unbalanced rearrangements, such as a pericentric inversion, it may not be not possible to predict what the problems will be. However, it would be important to discuss these with a geneticist or genetic counselor who may be able to give you additional information.
You can locate a genetics center near you at the website below.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University