Trisomy Disorders

Trisomy 11

Posted on: October 30, 2008

Chromosome 11, Partial Trisomy 11q

Important
It is possible that the main title of the report Chromosome 11, Partial Trisomy 11q 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

  • 11q Partial Trisomy
  • Chromosome 11, Partial Trisomy 11q13-qter
  • Chromosome 11, Partial Trisomy 11q21-qter
  • Chromosome 11, Partial Trisomy 11q23-qter
  • Distal Trisomy 11q
  • Partial Trisomy 11q
  • Trisomy 11q, Partial

Disorder Subdivisions

  • None

General Discussion

Chromosome 11, Partial Trisomy 11q is a rare chromosomal disorder in which the end (distal) portion of the long arm (q) of the 11th chromosome appears three times (trisomy) rather than twice in cells of the body. Although associated symptoms and findings may vary, the disorder is often associated with delayed growth before and after birth (prenatal and postnatal growth retardation); varying degrees of mental retardation; distinctive abnormalities of the skull and facial (craniofacial) region; and/or other features. Chromosomal analysis is necessary for a definite diagnosis..

ResourcesChildren’s Craniofacial Association
13140 Coit Road
Suite 307
Dallas, TX 75240
USA
Tel: 2145709099
Fax: 2145708811
Tel: 8005353643
Email: csmith@ccakids.com

Support Organization for Trisomy 18, 13, and Related Disorders
2982 South Union Street
Rochester, NY 14624-1926
Fax: (585)594-1957
Tel: (800)716-7638
Email: barbv@trisomy.org

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
TDD: (914)997-4764
Email: Askus@marchofdimes.com

The Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring, MD 20910
Tel: (301)565-3842
Fax: (301)565-3843
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org

AboutFace USA
PO Box 158
South Beloit, IL 61080
USA
Tel: 8884861209
Email: info@AboutFaceUSA.org

American Heart Association
National Center
7272 Greenville Avenue
Dallas, TX 75231-4596
Tel: (214)373-6300
Fax: (214)373-0268
Tel: (800)242-8721
Email: inquire@heart.org

UNIQUE – Rare Chromosome Disorder Support Group

P.O. Box 2189
Caterham
Surrey, Intl CR3 5GN
United Kingdom
Tel: 44 0 1883 330766
Fax: 44 0 1883 330766
Email: info@rarechromo.org

Craniofacial Foundation of America
975 East Third Street
Chattanooga, TN 37403
Tel: (423)778-9192
Fax: (423)778-8172
Tel: (800)418-3223
Email: farmertm@erlanger.org

Congenital Heart Disease Resource Page
Web Site on the Internet

Email: sheri.berger@csun.edu

European Chromosome 11q Network
Tom and Gabi Birle
Ahornstr. 13
Hebertshausen, Intl 85421
Germany
Tel: 31317423345
Fax: 31317426980
Email:
info@11q.org

………

Chromosome 11

What is chromosome 11?Chromosome 11 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 11 spans about 134 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the total DNA in cells.

Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 11 likely contains between 1,300 and 1,700 genes.

Genes on chromosome 11 are among the estimated 20,000 to 25,000 total genes in the human genome.

There are many conditions related to genes on chromosome 11.

Is there a standard way to diagram chromosome 11?Geneticists use diagrams called ideograms as a standard representation for chromosomes. Ideograms show a chromosome’s relative size and its banding pattern. A banding pattern is the characteristic pattern of dark and light bands that appears when a chromosome is stained with a chemical solution and then viewed under a microscope. These bands are used to describe the location of genes on each chromosome.

Ideogram of chromosome 11 See How do geneticists indicate the location of a gene? in the Handbook. Where can I find additional information about chromosome 11?You may find the following resources about chromosome 11 helpful.

You may also be interested in these resources, which are designed for genetics professionals.

Where can I find general information about chromosomes?The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding chromosome 11?base pair ; chromosome ; DNA ; gene

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References (4 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

SEE ALSO:

TRISOMY 11 MOSAICISM

Trisomy 11: an association with stem/progenitor cell immunophenotype.

Pub Med Links

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