trisomy 22


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trisomy 22

a congenital condition caused by the presence of an extra chromosome 22 in the G group, characterized by psychomotor retardation and various developmental anomalies. Common defects include microcephaly, micrognathia, hypotonia, hypertelorism, abnormal ears with preauricular tags or fistulas, and congenital heart disease. In partial trisomy 22 the extra chromosome is much smaller than the normal pair and causes coloboma of the iris, anal atresia, or both, as well as various other defects. See also cat-eye syndrome.
References in periodicals archive ?
In another case, sequencing results suggested trisomy 22; this led to the identification of trisomy 22 in 3 placental biopsy sites with disomy 22 in the cord blood.
In contrast, patients harboring inv(16) occasionally demonstrate trisomy 22, as well as trisomy of chromosomes 8 and 21.
Patients with inv(16) and 1 or more secondary chromosome abnormalities, especially trisomy 22, had a lower risk of relapse than those with inv(16) solely.