Chromosome 9, Trisomy 9p (Multiple Variants)
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Chromosome 9, Trisomy 9p (Multiple Variants) 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 9, Complete Trisomy 9P
- Chromosome 9, Partial Trisomy 9P, Included
- Chromosome 9, Trisomy 9pter-q11-13, Included
- Chromosome 9, Trisomy 9pter-q22-32, Included
- Dup(9p) Syndrome
- Duplication 9p Syndrome
- Rethore Syndrome (obsolete)
- Trisomy 9P Syndrome (Partial), Included
Chromosome 9, trisomy 9p is a rare chromosomal syndrome in which a portion of the 9th chromosome appears three times (trisomy) rather than twice in cells of the body. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as "p," a long arm identified by the letter "q," and a narrowed region at which the two arms are joined (centromere). Chromosomes are further subdivided into bands that are numbered outward from the centromere. For example, the short arm of chromosome 9 includes bands 9p11 to 9p24, and the long arm includes bands 9q11 to 9q34.
In trisomy 9p, the trisomy (or duplicated material) may involve a portion of the short arm (9p), the entire short arm, or the short arm and a portion of the long arm (9q) of chromosome 9. Evidence suggests that, in many cases, associated symptoms and findings may be relatively similar among affected infants despite differing lengths of the trisomic (duplicated) segment of 9p. However, in those with larger trisomies (e.g., extending to middle or end [distal] regions of 9q), additional features may also be present that appear to correlate with the extent of the duplication. Additionally, certain individuals with duplications of specific areas of chromosome 9p have developed any symptoms or only very mild or subtle symptoms.
Children with Trisomy 9p are affected by delays in reaching developmental milestones like crawling or walking (developmental delays), growth deficiency, and distinctive malformations of the skull and facial (craniofacial) region. As children grow older, intellectual disability may become apparent.
In some instances, additional physical abnormalities may also be present, such as other skeletal defects and/or structural malformations of the heart that are present at birth (congenital heart defects). In some cases, the trisomy appears to result from a balanced chromosomal rearrangement in one of the parents; in others, it is thought to arise from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically).
The chromosomal abnormality was originally reported in the medical literature in1970. Trisomy 9p was first proposed as a distinct syndrome with characteristic symptoms and findings in 1975.
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Craniofacial Foundation of America
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March of Dimes Birth Defects Foundation
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Support Organization for Trisomy 13/18 and Related Disorders, UK
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Trisomy 9 International Parent Support (9TIPS)
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UNIQUE - Rare Chromosome Disorder Support Group
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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
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.
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Last Updated: 12/31/1969
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