Pallister Killian Mosaic Syndrome
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Synonyms of Pallister Killian Mosaic Syndrome
- Chromosome 12, Isochromosome 12p syndrome
- Killian Syndrome
- Killian/Teschler-Nicola Syndrome
- Pallister Mosaic Syndrome
- Teschler-Nicola/Killian Syndrome
- Tetrasomy 12p, mosaic
- No subdivisions found.
Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder caused by the presence of four copies of the short arm of chromosome 12 instead of the normal two. 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.
Organizations related to Pallister Killian Mosaic Syndrome
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