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Copyright 1992, 2000, 2002, 2003
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
Disorder Subdivisions
General Discussion
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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Organizations related to Pallister Killian Mosaic Syndrome
- Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/
- Chromosome Disorder Outreach, Inc.
P.O. Box 724
Boca Raton FL 33429-0724
Phone #: 561-395-4252
800 #: N/A
e-mail: info@chromodisorder.org
Home page: http://www.chromodisorder.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- PKS Kids
123 Carowinds Drive
Greencastle PA 17225
Phone #: N/A
800 #: N/A
e-mail: onebuddy@comcast.net
Home page: http://www.pkskids.net
- UNIQUE - Rare Chromosome Disorder Support Group
P.O. Box 2189
Caterham
Surrey Intl CR3 5GN
Phone #: 44 -0 1-883 330766
800 #: --
e-mail: info@rarechromo.org
Home page: http://www.rarechromo.org
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