Trisomy 8q

Overview

What is trisomy 8q?

In humans, each cell normally contains 23 pairs of chromosomes, for a total of 46. Twenty-two of these pairs, called autosomes, are the same in both males and females. The 23rd pair, called the sex chromosomes, differs between males and females. Each of these chromosomes has 2 parts, called the long arm and the short arm. The long arm is referred to as “q” and the short arm is abbreviated “p”. In trisomy 8q, an extra copy of all or part of the long arm of chromosome 8 is present in the cells of the body. The cells that have an extra chromosome 8q are called “trisomic”. Sometimes, only some cells of the body have an extra 8q and others do not. This is called “mosaic”.

An extra copy of chromosome 8q can cause a range of symptoms, including specific facial features, poor growth, heart and kidney problems, and intellectual disability. Babies with trisomy 8q may be smaller even before they are born. The symptoms may be more or less severe depending on how much of chromosome 8q is included in the extra copy. Usually, having more of the chromosome will result in more serious symptoms.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/trisomy-8q/overview/7716 • DATE UPDATED: 2016-06-05

References

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1752

Wood, E., Dowey, S., Saul, D., Cain, C., Rossiter, J., Blakemore, K., Stetten, G. (2008). Prenatal diagnosis of mosaic trisomy 8q studied by ultrasound, cytogenetics, and array-CGH. Am J Med Genet A. 146A(6):764-9. http://www.ncbi.nlm.nih.gov/pubmed/18241063

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