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* [[22q11.2 distal deletion syndrome]]
* [[22q13 deletion syndrome]]
* Other chromosomal conditions: Other changes in the number or structure of chromosome 22 can have a variety of effects, including intellectual disability, delayed development, physical abnormalities, and other medical problems. These changes include an extra piece of chromosome 22 in each cell ([[partial trisomy]]), a missing segment of the chromosome in each cell (partial monosomy), and a circular structure called ring chromosome 22 that is caused by the breakage and reattachment of both ends of the chromosome.
* [[Cat-eye syndrome]] is a rare disorder most often caused by a chromosomal change called an inverted duplicated 22. A small extra chromosome is made up of genetic material from chromosome 22 that has been abnormally duplicated (copied). The extra genetic material causes the characteristic signs and symptoms of cat-eye syndrome, including an eye abnormality called [[ocular iris coloboma]] (a gap or split in the colored part of the eye), small skin tags or pits in front of the ear, heart defects, kidney problems, and, in some cases, delayed development.
* A rearrangement ([[Chromosomal translocation|translocation]]) of genetic material between chromosomes 9 and 22 is associated with several types of blood cancer ([[leukemia]]). This chromosomal abnormality, which is commonly called the [[Philadelphia chromosome]], is found only in cancer cells. The Philadelphia chromosome has been identified in most cases of a slowly progressing form of blood cancer called [[chronic myeloid leukemia]], or CML. It also has been found in some cases of more rapidly progressing blood cancers (acute leukemias). The presence of the Philadelphia chromosome can help predict how the cancer will progress and provides a target for molecular therapies.
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