Trisomy 22 syndrome 1

General: Trisomy for chromosome 21/22; trisomy 22 may be very mild 353f53d form of Down syndrome (trisomy 21).

Ocular: High myopia.

Clinical: Schizophrenia; micrognathia; large nostrils; flat occiput; hyperextension of elbows; macrocephaly; hydrocephalus; holoprosencephaly; facioauriculovertebral (Goldenhar) sequence.

Collins JF. Handbook of Clinical Ophthalmology. New York: Masson, 1982.

Fahmi F, et al. Hydrocephalus in an infant with trisomy 22. J Med Genet 1994; 31:141-l44.

Hayward MD, Bower BD. Chromosomal trisomy associated with the Sturge-Weber syndrome. Lancet 1960; 2:844.

Kobrynski L, et al. Trisomy 22 and facioauriculovertebral (Goldenhar) sequence. Am J Med Genet 1993; 46:68-71.

Kucerowa M, Polivkova Z. A case of a girl with a 21 ring chromosome. Hum Hered 1974; 24:100.