Important It is possible that the main title of the report Chromosome 4, Partial Trisomy Distal 4q 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 4, Partial Trisomy 4q (4q21-qter to 4q32-qter, included)
Chromosome 4, Partial Trisomy 4q (4q2 and 4q3, included)
Distal 4q Trisomy
Dup(4q) Syndrome, Partial
Duplication 4q Syndrome, Partial
Partial Trisomy 4q Sayndrome
Chromosome 4, Partial Trisomy Distal 4q is a rare chromosomal disorder in which a portion of the fourth chromosome appears three times (trisomy) rather than twice in cells of the body. Associated symptoms and findings may vary from case to case. However, common features include growth deficiency; mental retardation; distinctive malformations of the skull and facial (craniofacial) region, including an unusually small head (microcephaly), malformed ears, and a prominent nasal bridge; and/or defects of the hands and feet. In some cases, additional physical abnormalities may also be present, such as structural defects of the heart that are present at birth (congenital heart defects); genital abnormalities in affected males; urinary tract defects; and/or other findings. In most cases, the trisomy appears to result from a balanced chromosomal rearrangement in one of the parents; rarely, it is thought to arise from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically).
Children's Craniofacial Association 13140 Coit Road Suite 517 Dallas, TX 75240 USA Tel: (214)570-9099 Fax: (214)570-8811 Tel: (800)535-3643 Email: contactCCA@ccakids.com Internet: http://www.ccakids.com
Support Organization for Trisomy 18, 13, and Related Disorders 2982 S. Union Street Rochester, NY 14624-1926 Fax: (585)594-1957 Tel: (800)716-7638 Email: email@example.com Internet: http://www.trisomy.org
March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 Tel: (914)997-4488 Fax: (914)997-4763 Tel: (888)663-4637 Email: Askus@marchofdimes.com Internet: http://www.marchofdimes.com
FACES: The National Craniofacial Association PO Box 11082 Chattanooga, TN 37401 Tel: (423)266-1632 Fax: (423)267-3124 Tel: (800)332-2373 Email: firstname.lastname@example.org Internet: http://www.faces-cranio.org
The Arc 1825 K Street NW, Suite 1200 Washington, DC 20006 Tel: (202)534-3700 Fax: (202)534-3731 Tel: (800)433-5255 TDD: (817)277-0553 Email: email@example.com Internet: http://www.thearc.org
AmeriFace P.O. Box 751112 Limekiln, PA 19535 USA Tel: (702)769-9264 Fax: (702)341-5351 Tel: (888)486-1209 Email: firstname.lastname@example.org Internet: http://www.ameriface.org
American Heart Association 7272 Greenville Avenue Dallas, TX 75231 Tel: (214)784-7212 Fax: (214)784-1307 Tel: (800)242-8721 Email: Review.email@example.com Internet: http://www.heart.org
NIH/National Kidney and Urologic Diseases Information Clearinghouse 3 Information Way Bethesda, MD 20892-3580 Fax: (703)738-4929 Tel: (800)891-5390 TDD: (866)569-1162 Email: firstname.lastname@example.org Internet: http://www.kidney.niddk.nih.gov/
National Foundation for Facial Reconstruction 333 East 30th Street, Lobby Unit New York, NY 10016 Tel: (212)263-6656 Fax: (212)263-7534 Internet: http://www.nffr.org
UNIQUE - Rare Chromosome Disorder Support Group P.O. Box 2189 Caterham Surrey, CR3 5GN United Kingdom Tel: 4401883330766 Fax: 4401883330766 Email: email@example.com Internet: http://www.rarechromo.org
Craniofacial Foundation of America 975 East Third Street Chattanooga, TN 37403 Tel: (423)778-9176 Fax: (423)778-8172 Tel: (800)418-3223 Email: firstname.lastname@example.org Internet: http://www.craniofacialfoundation.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/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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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: 4/10/2009 Copyright 1996, 2001, 2003, 2009 National Organization for Rare Disorders, Inc.
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