There are many genetic conditions related to problems with the genes on chromosome 16.
Changes in the structure or number of copies of a chromosome can cause problems with health and development.
For example, having an extra copy of the gene is called trisomy 16.
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The most common health effect of trisomy 16 is miscarriage.
There are 46 chromosomes, occurring in 23 pairs, and containing thousands of genes.
Within each pair, one is inherited from the mother and one from the father.
These aberrations can cause problems in health and development.
The following chromosomal conditions are associated with abnormalities of chromosome 16.
Trisomy 16 is incompatible with life, and most pregnancies do not progress beyond the first trimester.
This is called mosaicism.
Trisomy 16 mosaicism is compatible with life.
Children born with this condition will develop many deformities as a result of the extra genetic material.
Deletion of 16p13.3 has been reported among individuals withtuberous sclerosis, Rubnstein-Taybi syndrome, andalpha-thalassemia.
Individuals born with this syndrome often have delayed development, intellectual disability, and autism spectrum disorder.
However, some have no symptoms.
They can pass this disorder to their children, who can have more severe effects.
However, more individuals with duplication have no symptoms.
Other Disorders
There are many other combinations of deletions or duplications of parts of chromosome 16.
Genetics Home Reference.How many chromosomes do people have?
Genetics Home Reference.Chromosome 16.
Rare Chromosome Disorder Support Group.Duplications of 16p.
National Center for Advancing Translational Sciences Genetic and Rare Diseases Information Center.16q24.3 microdeletion syndrome.
J Dev Behav Pediatr.
A Brief (and Basic) Overview of Chromosome 16 Disorders.
Disorders of Chromosome 16 Foundation.
U.S. National Library of Medicine Genetics Home Reference.
