Pallister's mosaicism syndrome
Tetrasomy of the short arm of chromosome 12. Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder that occurs for no apparent reason. Major symptoms may include a coarse face with a high forehead, sparse hair on the scalp, an abnormally wide space between the eyes, a fold of the skin over the inner corner of the eyes, and a broad nasal bridge with a highly arched palate. Mental retardation, loss of muscle tone, and streaks of skin lacking color are often present. The adult phenotype is marked mainly by epilepsy, macroglossia, coarse facies, and severe mental retardation.
- P. D. Pallister, L. F. Meissner, B. R. Elejade, et al:
The Pallister mosaic syndrome.
Birth Defects Original Article Series, New York, 1977, 13(3b): 103-110.
- W. Killian, M. Teschler-Nicola:
Case report 72: Mental retardation, unusual facial appearance, abnormal hair.
Syndrome Identification, 1981, 7: 6-7.