Chromosome 4, Partial Trisomy Distal 4q
National Organization for Rare Disorders, Inc.
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.
Synonyms Back to top
- 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
Disorder Subdivisions Back to top
General Discussion Back to top
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).
Resources Back to top
Children's Craniofacial Association
13140 Coit Road
Dallas, TX 75240
Support Organization for Trisomy 18, 13, and Related Disorders
2982 S. Union Street
Rochester, NY 14624-1926
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
1660 L Street, NW, Suite 301
Washington, DC 20036
Post Office Box 751112
Limekiln, PA 19535
American Heart Association
8200 Brookriver Drive
Dallas, TX 75247
NIH/National Kidney and Urologic Diseases Information Clearinghouse
3 Information Way
Bethesda, MD 20892-3580
National Foundation for Facial Reconstruction
333 East 30th Street, Lobby Unit
New York, NY 10016
UNIQUE - Rare Chromosome Disorder Support Group
P.O. Box 2189
Surrey, Intl CR3 5GN
Tel: 44 0 1883 330766
Fax: 44 0 1883 330766
Craniofacial Foundation of America
975 East Third Street
Chattanooga, TN 37403
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
For a Complete Report Back to top
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".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
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
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email firstname.lastname@example.org
Last Updated: 4/10/2009
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