Genetics Northern California

Glossary

TermDescription
KaryotypeA microscopic image of an individual's chromosomes arranged in a standard format showing the number, size, and shape of each chromosome.
Kilobase (kb)Unit of length for DNA fragments equal to 1000 nucleotides. 
Kniest dysplasia

People with Kniest dysplasia are usually diagnosed at birth and can be expected to reach an adult height of 100-145cm. Features include: a short-trunk and short limbs (limbs look long in comparison to trunk), round face, myopia and other significant eye complications, conductive or mixed hearing loss, enlarged joints and joint contractures, and curves in the spine (kyphoscoliosis) which may cause restrictive lung disease. Some individuals also have clubfeet and/or cleft palate.