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Trisomy 22

Trisomy 22 often referred to as Cat Eye Syndrome Syndrome, is a condition with possible lymphatic dysplasia involved and thus will present with lymphedema.

The lymphedema treatment program would include: Manual lymphatic drainage; compression wraps or compression bandages (using short stretch bandages), compression garments, compression sleeves.

Pat O'Connor

June 23, 2008

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What is chromosome 22?

Chromosome 22 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 22 is the second smallest human chromosome, spanning about 49 million base pairs (the building material of DNA) and representing between 1.5 and 2 percent of the total DNA in cells.

In 1999, researchers working on the Human Genome Project announced they had determined the sequence of base pairs that make up this chromosome. Chromosome 22 was the first human chromosome to be fully sequenced.

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 22 likely contains between 500 and 800 genes.

Genes on chromosome 22 are among the estimated 20,000 to 25,000 total genes in the human genome.

There are many conditions related to genes on chromosome 22.

What chromosomal conditions are related to chromosome 22?

The following conditions are caused by changes in the structure or number of copies of chromosome 22.

22q11.2 deletion syndrome

Most people with 22q11.2 deletion syndrome are missing about 3 million base pairs on one copy of chromosome 22 in each cell. The deletion occurs near the middle of the chromosome at a location designated as q11.2. This region contains about 30 genes, but many of these genes have not been well characterized. A small percentage of affected individuals have shorter deletions in the same region.

The loss of one particular gene, TBX1, is thought to be responsible for many of the characteristic features of 22q11.2 deletion syndrome, such as heart defects, an opening in the roof of the mouth (a cleft palate), distinctive facial features, and low calcium levels. A loss of this gene does not appear to cause learning disabilities, however. Other genes in the deleted region are also likely to contribute to the signs and symptoms of 22q11.2 deletion syndrome.

other chromosomal conditions

Other changes in the number or structure of chromosome 22 can have a variety of effects, including mental retardation, delayed development, physical abnormalities, and other medical problems. These changes include an extra piece of chromosome 22 in each cell (partial trisomy), a missing segment of the chromosome in each cell (partial monosomy), and a circular structure called ring chromosome 22 that is caused by the breakage and reattachment of both ends of the chromosome.

Cat-eye syndrome is a rare disorder most often caused by a chromosomal change called an inverted duplicated 22. A small extra chromosome is made up of genetic material from chromosome 22 that has been abnormally duplicated (copied). The extra genetic material causes the characteristic signs and symptoms of cat-eye syndrome, including an eye abnormality called ocular iris coloboma (a gap or split in the colored part of the eye), small skin tags or pits in front of the ear, heart defects, kidney problems, and, in some cases, delayed development.

A rearrangement (translocation) of genetic material between chromosomes 9 and 22 is associated with several types of blood cancer (leukemia). This chromosomal abnormality, which is commonly called the Philadelphia chromosome, is found only in cancer cells. The Philadelphia chromosome has been identified in most cases of a slowly progressing form of blood cancer called chronic myeloid leukemia, or CML. It also has been found in some cases of more rapidly progressing blood cancers (acute leukemias). The presence of the Philadelphia chromosome can help predict how the cancer will progress and provides a target for molecular therapies.

Is there a standard way to diagram chromosome 22?

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 22
See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about chromosome 22?

You may find the following resources about chromosome 22 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 22?

acute ; base pair ; calcium ; cancer ; chromosome ; chronic ; cleft palate ; coloboma ; deletion ; DNA ; gene ; genome ; kidney ; learning disability ; leukemia ; mental retardation ; monosomy ; palate ; rearrangement ; ring chromosomes ; sign ; symptom ; translocation ; trisomy

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

References (13 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.

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Complete Trisomy 22

http://www.c22c.org/t22.htm

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Chromosome 22 Central

SUPPORT FOR
CHROMOSOME 22 RELATED DISORDERS

237 Kent Avenue
Timmins, Ontario CANADA
P4N 3C2
(705) 268-3099
a815@c22c.org

http://www.c22c.org/

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Chromosome 22 related Syndromes

http://ibis-birthdefects.org/start/digeorge.htm

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Trisomy 22 Interest Board

http://members.boardhost.com/Stephanie/

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Human Chromosome 22 Project Overview

http://www.sanger.ac.uk/HGP/Chr22/

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National Organization for Rare Disorders, Inc.

Chromosome 22, Trisomy Mosaic

Important
It is possible that the main title of the report Chromosome 22, Trisomy Mosaic 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

Disorder Subdivisions

General Discussion

Chromosome 22, Trisomy Mosaic is a rare chromosomal disorder in which chromosome 22 appears three times (trisomy) rather than twice in some cells of the body. The term "mosaic" indicates that some cells contain the extra chromosome 22, whereas others have the normal chromosomal pair.

The range and severity of associated symptoms and findings may vary, depending upon the percentage of cells with the chromosomal abnormality. However, characteristic features typically include growth delays, mental retardation, unequal development of the two sides of the body (hemidystrophy), and webbing of the neck. Affected individuals may also have abnormal outward deviation of the elbows upon extension (cubitus valgus), multiple pigmented moles or birthmarks (nevi), distinctive malformations of the head and facial (craniofacial) area, and other physical abnormalities..

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Resources

Support Organization for Trisomy 18, 13, and Related Disorders
2982 South Union Street
Rochester, NY 14624-1926
Tel: (716)594-4621
Fax: (716)594-4621
Tel: (800)716-7638
Email: barbv@trisomy.org
Internet: http://www.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
Internet: http://www.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
Internet: http://thearc.org/

National Organization for Rare Disorders, Inc.
55 Kenosia Ave
PO Box 1968
Danbury, CT 06813-1968
Tel: (203)744-0100
Fax: (203)798-2291
Tel: (800)999-6673
TDD: (203)797-9590
Email: orphan@rarediseases.org
Internet: http://www.rarediseases.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
Internet: http://www.americanheart.org

Support Organization for Trisomy 13/18 and Related Disorders, UK
7 Orwell Road
Petersfield
Hampshire, Intl GU31 4LQ
United Kingdom
Tel: 0121-351-3122
Email: enquiries@soft.org.uk
Internet: http://www.soft.org.uk

UNIQUE - Rare Chromosome Disorder Support Group
P.O. Box 2189
Caterham
Surrey, Intl CR3 5GN
United Kingdom
Tel: 4401883 330766
Fax: 4401883 330766
Email: info@rarechromo.org
Internet: http://www.rarechromo.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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 orphan@rarediseases.org

Last Updated:  3/31/2003
Copyright  1994, 2000, 2003 National Organization of Rare Disorders, Inc.

http://www.questdiagnostics.com/kbase/nord/nord998.htm

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Chromosome 22, Trisomy Mosaic

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Chromosome 22, Trisomy Mosaic 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

Disorder Subdivisions

Related Disorders List

Information on the following diseases can be found in the Related Disorders section of this report:

General Discussion

Chromosome 22, Trisomy Mosaic is a rare chromosomal disorder in which chromosome 22 appears three times (trisomy) rather than twice in some cells of the body. The term "mosaic" indicates that some cells contain the extra chromosome 22, whereas others have the normal chromosomal pair.

The range and severity of associated symptoms and findings may vary, depending upon the percentage of cells with the chromosomal abnormality. However, characteristic features typically include growth delays, mental retardation, unequal development of the two sides of the body (hemidystrophy), and webbing of the neck. Affected individuals may also have abnormal outward deviation of the elbows upon extension (cubitus valgus), multiple pigmented moles or birthmarks (nevi), distinctive malformations of the head and facial (craniofacial) area, and other physical abnormalities..

Symptoms

The symptoms and physical findings associated with Chromosome 22, Trisomy Mosaic may depend on the percentage of cells containing the extra 22nd chromosome. However, the disorder is often characterized by mental retardation, severe growth and developmental delays, and other physical abnormalities.

In many individuals with the disorder, there is unequal development of the two sides of the body (hemidystrophy), causing the body to appear dissimilar from one side to the other. For example, one leg may appear shorter than the other. In addition, in many individuals with hemidystrophy, there is associated hearing loss affecting one ear (unilateral hearing impairment).

According to reports in the medical literature, individuals with Chromosome 22, Trisomy Mosaic typically have additional symptoms and findings that are also often seen in Turner syndrome, another chromosomal disorder. (For further information on Turner syndrome, please see the "Related Disorders" section of this report below.) Such abnormalities include short stature; abnormal outward deviation of the elbows upon extension (cubitus valgus); multiple pigmented birthmarks (nevi); and malformations of the heart and its major blood vessels (cardiovascular defects), particularly defects affecting the major artery (aorta) that carries oxygen-rich blood from the lower left chamber (ventricle) of the heart throughout the body. Chromosome 22, Trisomy Mosaic is also associated with additional malformations seen in Turner syndrome, such as drooping of the upper eyelids (ptosis); webbing of the neck; a low hairline at the back of the neck; malformed (dysplastic) nails; and defective development of the ovaries (ovarian dysgenesis) in affected females. The ovaries are the paired glands that produce female reproductive cells (eggs) and certain female hormones. Therefore, ovarian dysgenesis may be associated with delayed or failed development of secondary sexual characteristics during puberty (e.g., breast development, the appearance of pubic hair, menstruation) and infertility.

Some individuals with Chromosome 22, Trisomy Mosaic also have additional malformations of the head and facial (craniofacial) area. In addition to drooping of the upper eyelids (ptosis), such malformations may include widely spaced eyes (ocular hypertelorism); vertical skin folds covering the eyes' inner corners (epicanthal folds); and abnormal pits or indentations in front of the ears (preauricular pits). Some affected individuals have additional physical abnormalities, such as underdeveloped fingers and toes (digits); abnormal skin creases on the palms of the hands; and kidney (renal) malformations.

Causes

In individuals with Chromosome 22, Trisomy Mosaic, chromosome 22 is present three times (trisomy) rather than twice in some 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" and a long arm identified by the letter "q."

The same chromosomal (karyotypical) makeup is usually present in all body cells (i.e., one cell line). However, those with a chromosomal mosaicism have two or more cell lines. Chromosome 22, Trisomy Mosaic is characterized by an extra chromosome 22 in one of an individual's cell lines, with at least one unaffected cell line also present. The presence of the additional chromosome is responsible for the symptoms and physical findings that characterize the disorder. Individuals with a low percentage of affected cells may have fewer, less severe symptoms than those with a high percentage of affected cells.

In most individuals with Chromosome 22, Trisomy Mosaic, the disorder appears to result from errors (e.g., nondisjunction) during the division of reproductive cells in one of the parents (parental meiosis) or during cellular division after fertilization (fetal mitosis). There have also been reports in which the disorder has occurred in association with uniparental disomy, an abnormality in which affected individuals have inherited both copies of a chromosomal pair from one parent, rather than one copy from each parent..

Affected Populations

Chromosome 22, Trisomy Mosaic appears to affect females more frequently than males. Approximately 15 cases have been reported in the medical literature..

Related Disorders

Symptoms of the following disorders may be similar to those of Chromosome 22, Trisomy Mosaic. Comparisons may be useful for a differential diagnosis:

Chromosome 22, Trisomy 22 is a rare chromosomal disorder in which all or a portion of chromosome 22 appears to be present three times (trisomy) rather than twice in all cells of the body ("complete" or "non-mosaic" trisomy 22). (Researchers suggest that, in many cases, the extra chromosomal material is in fact a portion of chromosome 11.) Associated symptoms and findings may be variable. However, many affected individuals have developmental delays, mental retardation, and/or distinctive craniofacial abnormalities, such as an unusually small head (microcephaly), widely spaced eyes (ocular hypertelorism), vertical skin folds covering the eyes' inner corners (epicanthal folds), and incomplete closure of the roof of the mouth (cleft palate). Additional craniofacial defects may include an abnormally small jaw (micrognathia); absence or underdevelopment of the outer ears, with narrow, blind ending, or absent external ear canals; and/or the presence of abnormal pits or indentations in front of the ears (preauricular pits). In other cases, affected individuals have unusually large, low-set outer ears; an abnormally prominent forehead; a bulbous nose with a flat nasal tip; and/or an unusually long vertical groove (philtrum) between the nose and the upper lip. Individuals with Chromosome 22, Trisomy 22 may also have additional physical abnormalities, such as a short, webbed neck; underdeveloped bones at the ends of the fingers and toes (distal phalanges); congenital heart defects; and kidney (renal) defects. In some cases, neuromuscular and neurologic abnormalities may be present, including unusually low muscle tone (hypotonia) and episodes of uncontrolled electrical activity in the brain (seizures).

Turner syndrome is a rare chromosomal disorder that affects females. Normally, females have two X chromosomes (whereas males have one X and one Y chromosome) in body cells. However, in most females with Turner syndrome, one X chromosome is missing from the cells (45,X karyotype); in such cases, researchers suggest that approximately 40 percent of affected females may have some Y chromosomal material in addition to the one X chromosome. In other females with Turner syndrome, both X chromosomes may be present, but one may have genetic defects. In still other cases, some cells may have the normal pair of X chromosomes whereas other cells do not (45,X/46,XX mosaicism). Turner syndrome is often characterized by short stature; a short, webbed neck; a low hairline; drooping of the upper eyelids (ptosis); widely spaced eyes (ocular hypertelorism); and hearing impairment. Additional features may include widely spaced, inverted, and/or underdeveloped (hypoplastic) nipples; multiple pigmented birthmarks (nevi); abnormal outward deviation of the elbows upon extension (cubitus valgus); malformed nails; cardiac and aortic defects; and/or kidney (renal) abnormalities. In addition, in almost all cases, there is defective development of the ovaries (ovarian dysgenesis, e.g., immature [streak] ovaries). As a result, normal secondary sexual characteristics fail to develop during puberty, such as the appearance of pubic hair, breast development, and menstruation (primary amenorrhea). Almost all affected females are infertile. Although intellectual abilities are usually normal, some individuals may experience difficulties with visual-spatial relationships (e.g., right-left disorientation). Although the exact cause of Turner syndrome is not known, the disorder is thought to result from an error during the division (meiosis) of a parent's reproductive cells. (For more information on Turner syndrome, please choose "Turner" as your search term in the Rare Disease Database.)

Other chromosomal disorders may be characterized by symptoms and findings similar to those potentially associated with Chromosome 22, Trisomy Mosaic. Chromosomal testing is necessary to confirm the specific chromosomal abnormality present. (For further information on such chromosomal disorders, choose the name of the specific disorder in question or use "chromosome" as your search term in the Rare Disease Database.)

Noonan syndrome is a rare genetic disorder characterized by abnormalities of the head and facial (craniofacial) area; webbing of the neck; short stature; and/or distinctive malformations of the chest. For example, there may be abnormal prominence of the upper portion and/or depression of the lower portion of the breastbone (pectus carinatum and/or pectus excavatum). Additional abnormalities may also be present, such as heart defects; failure of one or both testes to descend into the scrotum (unilateral or bilateral cryptorchidism) in affected males; pigmented birthmarks (nevi), small black or dark brown "freckle-like" spots (lentigines), and/or larger, light brown discolorations ("cafe-au-lait" spots) on the skin; and mental retardation. Characteristic craniofacial abnormalities may include a triangular-shaped face, widely spaced eyes (ocular hypertelorism), drooping of the upper eyelids (ptosis), a highly arched roof of the mouth (palate), low-set ears, and/or other malformations. Noonan syndrome may be inherited as an autosomal dominant trait. In cases without a positive family history, the disorder appears to occur randomly due to new genetic mutations. (For more information on this disorder, choose "Noonan" as your search term in the Rare Disease Database.).

Standard Therapies

Diagnosis

A diagnosis of Chromosome 22, Trisomy Mosaic may be suggested before birth (prenatally) by specialized tests, such as ultrasound, amniocentesis, or chorionic villus sampling (CVS). Fetal ultrasonography is a noninvasive diagnostic procedure during which reflected sound waves are used to create an image of the developing fetus. During amniocentesis, a sample of fluid that surrounds the fetus is removed and analyzed, whereas CVS involves the removal of tissue samples from a portion of the placenta. Chromosomal analysis performed on the fluid or tissue samples may reveal the presence of Chromosome 22, Trisomy Mosaic.

Other testing may also sometimes be conducted to help confirm the diagnosis. For example, according to reports in the medical literature, fetal skin biopsy may be recommended in some cases in which mosaicism has been detected during amniocentesis. Fetal skin biopsy involves the removal and microscopic examination of certain cells (e.g., fibroblasts) from the developing fetus.

A diagnosis of Chromosome 22, Trisomy Mosaic may also be made or confirmed after birth (postnatally) based upon a thorough clinical evaluation, detection of characteristic physical findings, and chromosomal analysis. In addition, specialized testing may be conducted to detect or characterize certain abnormalities that may be associated with the disorder (e.g., hearing impairment, cardiovascular defects, renal abnormalities, ovarian dysgenesis, etc.).

Treatment

The treatment of Chromosome 22, Trisomy Mosaic is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, such as pediatricians; surgeons; physicians who diagnose and treat heart abnormalities (cardiologists); hearing specialists; and/or other health care professionals.

In some infants and children with Chromosome 22, Trisomy Mosaic, treatment may include the surgical repair of certain craniofacial, cardiovascular, or other abnormalities potentially associated with the disorder. The surgical procedures performed will depend upon the severity of the anatomical abnormalities, their associated symptoms, and other factors. In addition, for some individuals with unilateral hearing loss, the use of artificial devices (prostheses) may be recommended, such as specialized hearing aids. Other treatment for the disorder is symptomatic and supportive.

Early intervention may be important in ensuring that children with Chromosome 22, Trisomy Mosaic reach their potential. Special services that may be beneficial include special education, speech therapy, physical therapy, and/or other medical, social, and/or vocational services. Genetic counseling will also be of benefit for affected individuals and their families.

Investigational Therapies

Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of chromosomal disorders in the future.

References

Buyse ML. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications, Inc.; 1990:395, 1717-1719.

Berghella V, et al. Prenatal confirmation of true fetal trisomy 22 mosaicism by fetal skin biopsy following normal fetal blood sampling. Prenat Diagn. 1998;18:384-389.

Hirschhorn K. Mosaic trisomy 22: a case presentation and literature review of trisomy 22 phenotypes [letter]. Am J Med Genet. 1998;76:447. Comment on: Am J Med Genet. 1997;71:406-413.

Crowe CA, et al. Mosaic trisomy 22: a case presentation and literature review of trisomy 22 phenotypes. Am J Med Genet. 1997;71:406-413. Comment in: Am J Med Genet. 1998;76:447.

Stoll C, et al. De novo trisomy 22 due to an extra 22Q-chromosome. Ann Genet. 1997;40:217-221.

de Pater JM, et al. Maternal uniparental disomy for chromosome 22 in a child with generalized mosaicism for trisomy 22. Prenat Diagn. 1997;17:81-86.

Phillips OP, et al. Risk of fetal mosaicism when placental mosaicism is diagnosed by chorionic villus sampling. Am J Obstet Gynecol. 1996;174:850-855.

Robinson WP, et al. Mosaicism most likely accounts for extended survival of trisomy 22 [letter]. Am J Med Genet. 1996;62:100-101. Comment on: Am J Med Genet. 1995;56:359-365.

Bacino CA, et al. Clinical and molecular studies in full trisomy 22: further delineation of the phenotype and review of the literature. Am J Med Genet. 1995;56:359-365. Comment in: Am J Med Genet. 1996;62:98-99, 100-101.

Woods CG, et al. Asymmetry and skin pigmentary anomalies in chromosome mosaicism. J Med Genet. 1994;31:694-701.

Lund HT, et al. Trisomy 22 mosaicism limited to skin fibroblasts in a mentally retarded, dysmorphic girl. Acta Paediatr Scand. 1990;79:714-718.

Lessick ML, et al. Trisomy 22 mosaicism with normal blood chromosomes. Case report with literature review. Clin Pediatr. 1988;27:451-454.

Wertelecki W, et al. Trisomy 22 mosaicism syndrome and Ullrich-Turner stigmata. Am J Med Genet. 1986;23:739-749.

Schinzel A, et al. Incomplete trisomy 22. III. Mosaic trisomy 22 and the problem of full trisomy 22. Hum Genet. 1981;56:269-273.

Dulitzky F, et al. Unilateral radial aplasia and trisomy 22 mosaicism. J Med Genet. 1981;18:473-476.

Shokeir MH. Complete trisomy 22. Clin Genet. 1978;14:139-146.


INCOMPLETE TRISOMY 22. III. MOSAIC TRISOMY 22 AND THE PROBLEM OF FULL TRISOMY 22. A. Schinzel, et al.; Hum Genet (1981; 56(3)). Pp. 269-273.

UNILATERAL RADIAL APLASIA AND TRISOMY 22 MOSAICISM. F. Dulitzky,et al.; JMed Genet (Dec 1981; 18(6)). Pp. 473-476.

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TRISOMY 22 MOSAICISM

Trisomy 22 is the second most common autosomal trisomy found among spontaneous abortions, accounting for 3-5% of all spontaneous abortions. Full (non-mosaic) trisomy 22  may in very rare cases survive to term. Some common clinical findings in full trisomy 22 include intrauterine growth restriction, microcephaly, hypertelorism, epicanthal folds, hypoplastic or low set ears, midface hypoplasia, hypoplastic distal phalanges, genitalia anomalies in males (Bacino et al.1995). Other findings seen may include Cleft palate, cardiac and/or renal anomalies and anal atresis/stenosis.

Mosiac trisomy 22 diagnosed through prenatal diagnosis can be either confined to the placental tissues or present in the fetus as well. When confined to the placenta, the outcome can be normal, although there is a risk of low birth weight. When present in the fetus, the outcome is variable.

Trisomy 22 detected on CVS

It is difficult at this point to say how often trisomy 22 present at CVS will be confirmed at amniocenetesis. However there are at least multiple cases where 100% trisomy was observed in a CVS culture, no evidence of the trisomy was found in amniotic fluid and the baby appeared normally grown and developed at birth. The behaviour of trisomy 22 confined to the placenta appears similar to that involving trisomy 16:  The origin of the trisomy has been maternal meiotic in all 7(?) cases studied to date; the outcome can be normal, but there is a risk of poor intrauterine growth which is generally attributed to the trisomic placenta; and it is possible for trisomy to persist in selected fetal tissues even if absent from most other tissues.  

We are aware of 7 cases of trisomy 22 detected on CVS which showed low or absent levels of trisomy in follow-up amniocentesis (Robinson et al. 1997, de Pater et al. 1997, Phillips et al. 1996, Balmer et al. 1999). Of these, 5 showed no trisomy on AF: 3 had a normal outcome and 2 exhibited IUGR. One case which showed 8.5% trisomic cells detected in AF was IUGR at birth and was positive for the trisomy in blood . Another with 20% trisomic cells in AF showed IUGR plus some anomalies (VSD etc) and followup showed the trisomic cells in skin but not in blood cultures.

Maternal uniparental disomy for chromosome 22 has been found in normal individuals and not believed to have a phenotype. A prenatal effect on growth has not been formally excluded, however, and all 5 cases of maternal UPD22 associated with trisomy detected prenatally or at birth did have a low birthweight.

Trisomy 22 detected on amniocentesis

Of 6 cases of trisomy 22 mosaicism present in AF (Schinzel 1981, Robinson et al. 1997, de Pater 1997; Berghella 1998, Hsu et al. 1997, Stoui et al. 1989) blood cultures were negative for the trisomy in all but two cases. Unfortunately little follow-up data is available in these cases. While IUGR was common, 4 of these 6 were not noted to have any obvious anomalies at birth.

Trisomy 22 detected postnatally

Crowe (1997) reviews 10 cases with generalized trisomy 22 mosaicism. Some features found included failure to thrive, mental delay, ptosis, dental anomaly, hearing loss, low posterior hair line, ovarian failure, syndactyly, hemiatrophy, streaked pigmentation. Most of these were however detected in blood or fibroblasts from children ascertained through abnormalitites. They thus likely over-estimate poor outcomes.

Uniparental Disomy (UPD 22)

UPD22 is not known to have a phenotype associated with imprinting. Prenatal testing for UPD is not currently indicated

Link to What is UPD?
Link to Maternal UPD 22 page 
Link to Paternal UPD 22 page

Internet Links

Medgen

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External Links:

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Chromosome 22 Central

http://www.c22c.org/

Prenatal diagnosis and postnatal follow-up of a child with mosaic trisomy 22 with several levels of mosaicism in different tissues. 

Oct 2011

 Wiley Online Library

http://onlinelibrary.wiley.com/doi/10.1111/j.1447-0756.2010.01278.x/abstract?systemMessage=Wiley+Online+Library+will+be+disrupted+3+Dec+from+10-12+

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A unique case of a patient with partial trisomy 22 and lipodystrophy: is it a new syndrome due to an IGF-IR mutation? 

2010

http://www.ncbi.nlm.nih.gov/pubmed/20681219

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ICD-10, ICD-9, External Resources:

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ICD 10 code
  • Q92.8

ICD9 758.5

2008 ICD-9-CM Diagnosis 758.5

Other conditions due to autosomal anomalies

  • 758.5 is a specific code that can be used to specify a diagnosis
  • 758.5 contains 17 index entries
  • View the ICD-9-CM Volume 1 758.* hierarchy

758.5 also known as:

  • Accessory autosomes NEC
Orpha number ORPHA1726
OMIM 115470
DiseasesDB 29864

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see also:

Trisomy Disorders

http://journals.aol.com/patoco2/TrisomyDisorders/

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Pat O'Connor

Lymphedema People / Advocates for Lymphedema

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http://www.lymphedemapeople.com/phpBB3/viewforum.php?f=3

For information about How to Treat a Lymphedema Wound

http://www.lymphedemapeople.com/wiki/doku.php?id=how_to_treat_a_lymphedema_wound

For information about Lymphedema Treatment 

http://www.lymphedemapeople.com/wiki/doku.php?id=treatment

For information about Exercises for Lymphedema 

http://www.lymphedemapeople.com/wiki/doku.php?id=exercises_for_lymphedema

For information on Infections Associated with Lymphedema

http://www.lymphedemapeople.com/wiki/doku.php?id=infections_associated_with_lymphedema

For information on Lymphedema in Children

http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_in_children

Lymphedema Glossary

http://www.lymphedemapeople.com/wiki/doku.php?id=glossary:listing

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Lymphedema People - Support Groups

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Children with Lymphedema

The time has come for families, parents, caregivers to have a support group of their own. Support group for parents, families and caregivers of chilren with lymphedema. Sharing information on coping, diagnosis, treatment and prognosis. Sponsored by Lymphedema People.

http://health.groups.yahoo.com/group/childrenwithlymphedema/

Subscribe: childrenwithlymphedema-subscribe@yahoogroups.com


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Lipedema Lipodema Lipoedema

No matter how you spell it, this is another very little understood and totally frustrating conditions out there. This will be a support group for those suffering with lipedema/lipodema. A place for information, sharing experiences, exploring treatment options and coping.

Come join, be a part of the family!

http://health.groups.yahoo.com/group/lipedema_lipodema_lipoedema/?yguid=209645515

Subscribe: lipedema_lipodema_lipoedema-subscribe@yahoogroups.com

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MEN WITH LYMPHEDEMA

If you are a man with lymphedema; a man with a loved one with lymphedema who you are trying to help and understand come join us and discover what it is to be the master instead of the sufferer of lymphedema.

http://health.groups.yahoo.com/group/menwithlymphedema/

Subscribe: menwithlymphedema-subscribe@yahoogroups.com

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All About Lymphangiectasia

Support group for parents, patients, children who suffer from all forms of lymphangiectasia. This condition is caused by dilation of the lymphatics. It can affect the intestinal tract, lungs and other critical body areas.

http://health.groups.yahoo.com/group/allaboutlymphangiectasia/

Subscribe: allaboutlymphangiectasia-subscribe@yahoogroups.com

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Lymphatic Disorders Support Group @ Yahoo Groups

While we have a number of support groups for lymphedema... there is nothing out there for other lymphatic disorders. Because we have one of the most comprehensive information sites on all lymphatic disorders, I thought perhaps, it is time that one be offered.

DISCRIPTION

Information and support for rare and unusual disorders affecting the lymph system. Includes lymphangiomas, lymphatic malformations, telangiectasia, hennekam's syndrome, distichiasis, Figueroa
syndrome, ptosis syndrome, plus many more. Extensive database of information available through sister site Lymphedema People.

http://health.groups.yahoo.com/group/lymphaticdisorders/

Subscribe: lymphaticdisorders-subscribe@yahoogroups.com

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Lymphedema People New Wiki Pages

Have you seen our new “Wiki” pages yet?  Listed below are just a sample of the more than 140 pages now listed in our Wiki section. We are also working on hundred more.  Come and take a stroll! 

Lymphedema Glossary 

http://www.lymphedemapeople.com/wiki/doku.php?id=glossary:listing 

Lymphedema 

http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema 

Arm Lymphedema  

http://www.lymphedemapeople.com/wiki/doku.php?id=arm_lymphedema 

Leg Lymphedema 

http://www.lymphedemapeople.com/wiki/doku.php?id=leg_lymphedema 

Acute Lymphedema 

http://www.lymphedemapeople.com/wiki/doku.php?id=acute_lymphedema 

The Lymphedema Diet 

http://www.lymphedemapeople.com/wiki/doku.php?id=the_lymphedema_diet 

Exercises for Lymphedema  

http://www.lymphedemapeople.com/wiki/doku.php?id=exercises_for_lymphedema 

Diuretics are not for Lymphedema 

http://www.lymphedemapeople.com/wiki/doku.php?id=diuretics_are_not_for_lymphedema 

Lymphedema People Online Support Groups 

http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_people_online_support_groups 

Lipedema 

http://www.lymphedemapeople.com/wiki/doku.php?id=lipedema 

Treatment 

http://www.lymphedemapeople.com/wiki/doku.php?id=treatment 

Lymphedema and Pain Management 

http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_and_pain_management 

Manual Lymphatic Drainage (MLD) and Complex Decongestive Therapy (CDT)

http://www.lymphedemapeople.com/wiki/doku.php?id=manual_lymphatic_drainage_mld_complex_decongestive_therapy_cdt 

Infections Associated with Lymphedema 

http://www.lymphedemapeople.com/wiki/doku.php?id=infections_associated_with_lymphedema 

How to Treat a Lymphedema Wound 

http://www.lymphedemapeople.com/wiki/doku.php?id=how_to_treat_a_lymphedema_wound 

Fungal Infections Associated with Lymphedema 

http://www.lymphedemapeople.com/wiki/doku.php?id=fungal_infections_associated_with_lymphedema 

Lymphedema in Children 

http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_in_children 

Lymphoscintigraphy 

http://www.lymphedemapeople.com/wiki/doku.php?id=lymphoscintigraphy 

Magnetic Resonance Imaging 

http://www.lymphedemapeople.com/wiki/doku.php?id=magnetic_resonance_imaging 

Extraperitoneal para-aortic lymph node dissection (EPLND) 

http://www.lymphedemapeople.com/wiki/doku.php?id=extraperitoneal_para-aortic_lymph_node_dissection_eplnd 

Axillary node biopsy 

http://www.lymphedemapeople.com/wiki/doku.php?id=axillary_node_biopsy

Sentinel Node Biopsy 

http://www.lymphedemapeople.com/wiki/doku.php?id=sentinel_node_biopsy

 Small Needle Biopsy - Fine Needle Aspiration 

http://www.lymphedemapeople.com/wiki/doku.php?id=small_needle_biopsy 

Magnetic Resonance Imaging 

http://www.lymphedemapeople.com/wiki/doku.php?id=magnetic_resonance_imaging 

Lymphedema Gene FOXC2

 http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_gene_foxc2

 Lymphedema Gene VEGFC

http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_gene_vegfc

 Lymphedema Gene SOX18

 http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_gene_sox18

 Lymphedema and Pregnancy

http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_and_pregnancy

Home page: Lymphedema People

http://www.lymphedemapeople.com

Page Updated: Nov. 28, 2011