Important It is possible that the main title of the report Pallister Killian Mosaic Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Chromosome 12, Isochromosome 12p syndrome
Pallister Mosaic Syndrome
Tetrasomy 12p, mosaic
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.
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Chromosome Disorder Outreach, Inc. P.O. Box 724 Boca Raton, FL 33429-0724 USA Tel: (561)395-4252 Fax: (561)395-4252 Email: email@example.com Internet: http://www.chromodisorder.org/CDO/
UNIQUE - Rare Chromosome Disorder Support Group P.O. Box 2189 Caterham Surrey, CR3 5GN United Kingdom Tel: 4401883330766 Fax: 4401883330766 Email: firstname.lastname@example.org Internet: http://www.rarechromo.org
Genetic and Rare Diseases (GARD) Information Center PO Box 8126 Gaithersburg, MD 20898-8126 Tel: (301)251-4925 Fax: (301)251-4911 Tel: (888)205-2311 TDD: (888)205-3223 Internet: http://rarediseases.info.nih.gov/GARD/
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It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
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Last Updated: 5/21/2008 Copyright 1992, 2000, 2002, 2003 National Organization for Rare Disorders, Inc.
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