Chromosome 6, Partial Trisomy 6qNational Organization for Rare Disorders, Inc.
Important
General DiscussionChromosome 6, Partial Trisomy 6q is an extremely rare chromosomal disorder in which a portion of the 6th chromosome (6q) is present three times (trisomy) rather than twice in cells of the body. Associated symptoms and findings may vary in range and severity from case to case. However, many affected infants and children have slow physical development (growth retardation); mental retardation; malformations of the skull and facial (craniofacial) region; an unusually short, webbed neck; abnormal bending (flexion) or extension of certain joints in fixed postures (joint contractures); and/or other physical abnormalities. In most cases, Chromosome 6, Partial Trisomy 6q has been the result of a balanced translocation in one of the parents. Supporting OrganizationsAmeriFace
Children's Craniofacial Association
Chromosome Disorder Outreach, Inc.
Craniofacial Foundation of America
Genetic and Rare Diseases (GARD) Information Center
March of Dimes
Support Organization for Trisomy 18, 13, and Related Disorders
The Arc
UNIQUE - Rare Chromosome Disorder Support Group
For a Complete ReportThis is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Chromosome 6, Partial Trisomy 6qNational Organization for Rare Disorders, Inc. |
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