Chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb


What is 16p12.2 microdeletion?

16p12.2 microdeletion syndrome is a genetic condition caused when a small section of the DNA is missing between bands 12.2 and 11.2 on the "p" arm (short arm) of chromosome 16.

In humans, each cell normally contains 23 pairs of chromosomes, for a total of 46. Twenty-two of these pairs, called autosomes, look the same in both males and females. The 23rd pair, the sex chromosomes named X and Y, differs between males and females and usually determines if we are a boy or girl. The numbered chromosomes are numbered 1-22, from largest to smallest. Each chromosome 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". Both arms of all chromosomes are further divided into light and dark colored bands that are labeled by numbers. The further away from the centromere (connecting part between p and q arm) the higher the number. The labeled bands help everyone stay consistent in discussed specific parts of the chromosome.

In 16p12.2-p11.2 microdeletion syndrome the size of the missing piece can vary and so can the health problems that it causes. The health issues can include: developmental delay, intellectual disability, unique facial features, recurrent ear infections, feeding difficulties, seizures, behavioral problems, autism spectrum, heart defects, and shorter than average height.

Girirajan, S. et al. (2015). 16p12.2 Microdeletion. GeneReviews.

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