1. Trisomy 21, Down Syndrome, Results From Genetic Disorder Tests, Amniocentesis, C Trisomy 21 (down syndrome) is a genetic disorder that occurs when an extracopy of the chromosome is present in the 21st chromosomal pairing. http://www.paternityangel.com/Preg_info_zone/Disorders/Trisomy21.htm

Home Timeline Men's Info Personal_ Calendar ... Shopping Calculators... Due Date Calcs Weight Gain Calc Most Popular... Baby's Week-by-Week Development Baby's Development in Pictures Baby Names Database Sexual Relations During Pregnancy ... Becoming Pregnant (How it all happens) Navigation... Home Page Shopping Zone Information Zone Interactive Zone ... Mail the Editor Down Syndrome - Trisomy 21 Introduction Trisomy 21 - Down Syndrome Trisomy 18, Edward Syndrome Trisomy 13, Patau Syndrome Neural Tube and Ventral Wall Defects William's Syndrome ... Cri Du Chat Syndrome Trisomy 21 (Down Syndrome) is a genetic disorder that occurs when an extra copy of the chromosome is present in the 21st chromosomal pairing. This is the most common form of genetic disorders in humans. Some statistics claim that as many as 1 in 700 embryos are Trisomy 21. The risk of carrying a Trisomy 21 child increases with age (after 35, the risk increases dramatically). See the article on Genetic Testing Options in Pregnancy for details of screening programs and genetic diagnostic techniques available. Mental retardation is an inevitable result of this extra chromosome. Down Syndrome also carries with it major risk of heart defects as well as gastrointestinal problems associated with intestine or esophagus blockages.

2. Down Syndrome Association Of Toronto What is down syndrome? down syndrome is a genetic disorder, resulting in an extra 21st chromosome. http://www.dsamt.toronto.on.ca/

Forget the Myths, Get the Facts, See the Person! Who are we? What is Down syndrome What are the FACTS versus the MYTHS What is the Canadian Down Syndrome Network We are a charitable , non-profit organization created by parents in March 1985, dedicated to: providing a social and information network for parents. dispelling the myths and promoting a positive and accurate image of persons with Down syndrome in the community. pursuing civil and human rights, equality of opportunity, and the full integration of persons with Down syndrome. ensuring the availability of appropriate, quality services for all persons with Down syndrome. ensuring that all students with Down syndrome be welcomed in regular classes in their local neighbourhood schools, with appropriate programs and support services. Our elected Board of Directors convenes regularly to provide leadership for the association and to organize events for Down Syndrome Awareness Week . Several times a year our membership comes together for educational seminars, mini-conferences and family-centered social events. We publish a

3. Trisomy 18, Edward Syndrome, Results From Genetic Disorder Tests, Amniocentesis, Introduction. Trisomy 21 down syndrome. Trisomy 18, Edward syndrome. Cri Du Chatsyndrome. Trisomy 18 (Edwards syndrome) is a genetic disorder that occurs http://www.paternityangel.com/Preg_info_zone/Disorders/Trisomy18.htm

Home Timeline Men's Info Personal_ Calendar ... Shopping Calculators... Due Date Calcs Weight Gain Calc Most Popular... Baby's Week-by-Week Development Baby's Development in Pictures Baby Names Database Sexual Relations During Pregnancy ... Becoming Pregnant (How it all happens) Navigation... Home Page Shopping Zone Information Zone Interactive Zone ... Mail the Editor Edwards Syndrome - Trisomy 18 Introduction Trisomy 21 - Down Syndrome Trisomy 18, Edward Syndrome Trisomy 13, Patau Syndrome Neural Tube and Ventral Wall Defects William's Syndrome Turner's Syndrome ... Cri Du Chat Syndrome Trisomy 18 (Edwards Syndrome) is a genetic disorder that occurs when an extra copy of the chromosome is present in the 18th chromosomal pairing. This is the second most common form of genetic disorder in humans. The statistics claim that between 1 in 2000 and 1 in 7000 embryos are Trisomy 18. Like Trisomy 21, mental retardation is an inevitable result of this extra chromosome, however the majority of these children die within a very short time after birth. A higher risk of the baby dying whilst still in the ueterus is also a factor. Very few Trisomy 18 children live beyond one year. Edwards Syndrome is normally characterised by low set ears, deformed fingers, narrow nose and a receding jaw as well as congenital heart disease.

4. Down Syndrome Overview - A Genetic Disorder down syndrome is a genetic disorder that includes a combination of birth defectsincluding some degree of mental retardation, characteristic facial features and http://www.moondragon.org/obgyn/pediatric/downsyndrome.html

(This page is best viewed with 800x600 monitor display) MoonDragon's Pediatric Information Down Syndrome Overview What is Down syndrome? Down syndrome is a genetic disorder that includes a combination of birth defects including some degree of mental retardation, characteristic facial features and, often, heart defects, visual and hearing impairment and other health problems. The severity of all of these problems varies greatly among affected individuals. Down syndrome is one of the most common genetic birth defects, affecting approximately one in 800 to 1,000 babies. It generally is caused by an extra chromosome, the structures in cells that contain hereditary information. In this country, there are approximately 350,000 individuals with Down syndrome, according to the National Down Syndrome Society. Life expectancy among adults with Down syndrome is about 55 years, though life span varies. What causes Down syndrome? Do children with Down syndrome have special health problems? childhood immunizations Can Down syndrome be cured or prevented?

5. Down Syndrome Association Of Toronto An organization created by parents, dedicated to providing a social and information network for parents. Also includes detailed information about the genetic disorder. http://dsat.ca/

Forget the Myths, Get the Facts, See the Person! Who are we? What is Down syndrome What are the FACTS versus the MYTHS What is the Canadian Down Syndrome Network We are a charitable , non-profit organization created by parents in March 1985, dedicated to: providing a social and information network for parents. dispelling the myths and promoting a positive and accurate image of persons with Down syndrome in the community. pursuing civil and human rights, equality of opportunity, and the full integration of persons with Down syndrome. ensuring the availability of appropriate, quality services for all persons with Down syndrome. ensuring that all students with Down syndrome be welcomed in regular classes in their local neighbourhood schools, with appropriate programs and support services. Our elected Board of Directors convenes regularly to provide leadership for the association and to organize events for Down Syndrome Awareness Week . Several times a year our membership comes together for educational seminars, mini-conferences and family-centered social events. We publish a

6. The Arc's Q&A On Down Syndrome Article by director of Rhode Island's Child Development Center discusses how DS children develop and the chromosomal subtypes found. children are born with this chromosome disorder. It is believed there problems, or genetic predisposition may be the cause of the improper cell division resulting in down syndrome. http://thearc.org/faqs/down.html

Down Syndrome by Siegfried M. Pueschel, M.D., Ph.D., M.P.H What is Down syndrome? People with Down syndrome are first and foremost human beings who have recognizable physical characteristics and limited intellectual endowment which are due to the presence of an extra chromosome 21. The estimated incidence of Down syndrome is between 1 in 1,000 to 1 in 1,100 live births. Each year approximately 3,000 to 5,000 children are born with this chromosome disorder. It is believed there are about 250,000 families in the United States who are affected by Down syndrome. How do children with Down syndrome develop? Children with Down syndrome are usually smaller, and their physical and mental developments are slower, than youngsters who do not have Down syndrome. The majority of children with Down syndrome function in the mild to moderate range of mental retardation. However, some children are not mentally retarded at all; they may function in the borderline to low average range; others may be severely mentally retarded. There is a wide variation in mental abilities and developmental progress in children with Down syndrome. Also, their motor development is slow; and instead of walking by 12 to 14 months as other children do, children with Down syndrome usually learn to walk between 15 to 36 months. Language development is also markedly delayed. It is important to note that a caring and enriching home environment, early intervention, and integrated education efforts will have a positive influence on the child’s development.

7. Special Child: Disorder Zone Archives - Down Syndrome Introduction. down syndrome (DS) is a genetic disorder that is caused by an extrachromosome 21 that is present in all or some of the individual’s cells. http://www.specialchild.com/archives/dz-007.html

Disorder Zone Archives Down Syndrome Jacob Spiegel Melina Lerma Introduction The additional chromosome is almost always the result of faulty cell division, in either the egg or sperm, resulting in 3 chromosome 21s (2 from the egg and 1 from the sperm, or vice-versa). Though the extra chromosome could come from either the father or the mother, only 5% of the cases have been traced to the father. Women age 35 years and older have a significantly increased chance of having a child with DS, however, 80% of children born with DS are actually born to mothers under the age of 35 years due to higher fertility rates. DS is one of the most common chromosome abnormalities. It is estimated that the incidence is between 1 in 800 to 1,000 live births. There are approximately 350,000 individuals in the United States with DS. It occurs in all racial, ethnic, and socioeconomic groups. Recent research shows that slightly more males than females are born with DS in comparison with the general population. Down syndrome was first accurately described in 1866 by an English physician named John Langdon Down. Then, in 1959, a French physician named Jerome Lejeune identified Down syndrome as a chromosome anomaly. It was Lejeune who observed 47 chromosomes in individuals with DS, rather than 46 chromosomes.

8. Trisomy 18, 21, 13, Down Syndrome, Edward Syndrome, Results From Genetic Disorde The following pages describe several of the genetic disorders and foetal defects that can be detected by using medical name of the disorder. For example, down syndrome is known as http://www.paternityangel.com/Preg_info_zone/Disorders/GenDisorders_Intro.htm

Home Timeline Men's Info Personal_ Calendar ... Shopping Calculators... Due Date Calcs Weight Gain Calc Most Popular... Baby's Week-by-Week Development Baby's Development in Pictures Baby Names Database Sexual Relations During Pregnancy ... Becoming Pregnant (How it all happens) Navigation... Home Page Shopping Zone Information Zone Interactive Zone ... Mail the Editor Genetic Disorders and Foetal Defects Back To Home Page Introduction Trisomy 21 - Down Syndrome Trisomy 18, Edward Syndrome Trisomy 13, Patau Syndrome Neural Tube and Ventral Wall Defects ... Cri Du Chat Syndrome The following pages describe several of the genetic disorders and foetal defects that can be detected by using prenatal testing as described in the first part of this article Genetic Testing Options in Pregnancy Genetics: Every man and woman constitutes 23 pairs of chromosomes (a total of 46) including the one pair that is the main difference between the sexes, i.e. the sexual chromosomes. Half of an individual's chromosomes come from the mother and half from the father. These chromosomes contain the information that is used by the body to determine the pattern of growth that will be followed. The following shows a picture (called a Karyotype) that is used to define a standard genetic profile for humans. It shows 22 pairs plus the X and Y sex chromosomes.

9. Genetic And Other Biological Syndromes Rett syndrome Rett syndrome is a genetic disorder which is 1. Fragile X syndrome.The most common chromosonal disorder next to down's syndrome, affecting 1 in http://www.ratbag.demon.co.uk/anna/asa/definitions/genetic.html

C. Genetic and Other Biological Syndromes Syndromes Which May Look Like or Occur With PDDs Contents Fragile X Down Syndrome Landau Kleffner Syndrome Angelman Syndrome ... Other Syndromes See also: Resources: Genetic and Other Syndromes Links Definitions: Rett Syndrome Rett Syndrome is a genetic disorder which is classified under Pervasive Developmental Disorders in the diagnostic manuals. Fragile X Syndrome The most common chromosonal disorder next to Down's Syndrome, affecting 1 in 1,200 people. As well as distinctive facial features, and other physical abnormalities such as heart murmurs, it causes intellectual impairment in approximately 80% of affected boys and 30% of affected girls. Girls tend to be less severely affected but most will have autistic symptoms. Many affected boys will be hyperactive. Many people who carry the gene are unaffected or only mildy affected, so testing for fragile-X is often routine on discovery of an ASD. Return to Top Down Syndrome Perhaps one of the best known, and most common, chromosome disorders, Down's Syndrome causes intellectual impairment, distinctive facial features, (often) short, stocky stature and can cause physical problems such as heart murmurs and arthritis. However, it has been estimated that at least 10% also have an ASD, which frequently goes undiagnosed.

10. Down Syndrome And Autistic Spectrum Disorder: A Look At What We Know down syndrome and Autistic Spectrum disorder A Look at What We Know This may be due to other genetic or other biological influences on brain development. http://www.altonweb.com/cs/downsyndrome/capone.html

Down Syndrome and Autistic Spectrum Disorder: A Look at What We Know George T. Capone, M.D. Director of the Down Syndrome Clinic and Attending Physician on the Neurobehavioral Unit at Kennedy Krieger Institute, Baltimore, MD Disability Solutions Printed with the permission of Joan E. Medlen , R.D., Editor 9220 S.W. Barbur Boulevard, #119-179 Portland OR 97219-5428 Fax: (503) 246-3869 Some families do their own research and mention they think their child may have autistic spectrum disorder (ASD) along with Down syndrome. Others have no idea what may be happening. They do know it isn't good and they want answers now. This article is for families in situations like this and other, similar ones. If your child has been dually-diagnosed with Down syndrome and autistic spectrum disorder (DS-ASD) or if you believe your child may have ASD, you will learn a little more about what that means, what we are learning through data collection, and insights to the evaluation process. There is little written in the form of research or commentary about DS-ASD. In fact, until recently, it was commonly believed that the two conditions could not exist together. Parents were told their child had Down syndrome with a severe to profound cognitive impairment without further investigation or intervention into a diagnostic cause. Today, the medical profession recognizes that people with Down syndrome may also have a psychiatric-related diagnosis such as ASD or Obsessive Compulsive Disorder (OCD). Because this philosophy is relatively new to medical and educational professionals, there is little known about children and adults with DS-ASD medically or educationally.

11. Disability - Other Conditions There is no cure but people with down syndrome can become valuable members of thecommunity. PraderWilli syndrome is a rare genetic disorder, which affects http://www.disability.vic.gov.au/dsonline/dsarticles.nsf/pages/su_disability_oth

12. General Genetic Disorders Achondroplasia Genetic Disorder Links A Comprehensive more about a certain genetic disorder, we can better understand how our genetic code down first described down syndrome in 1866 (Korenberg 1993), but a genetic explanation was http://www.ahs.k12.wi.us/staff/science/mechenich/geneticdisorders.htm

13. Diseases And Conditions -- Discovery Health -- Down Syndrome DIAGNOSIS OF down syndrome The child with down's syndrome is characterized by striking physical changes, low stature with delayed physical and mental milestones. The defects are widespread through the body. down syndrome person a disagreeable but ready index to his disorder. The whole body structure is abnormal to some degree, testifying to the wide spread genetic disorder http://health.discovery.com/diseasesandcond/encyclopedia/609.html

Down syndrome By Ronald J. Jorgenson, DDS, PhD, FACMG Down syndrome is the name for the pattern of physical features and disorders that usually occur from an extra 21st chromosome. Chromosomes are the materials that store people's genetic information. What is going on in the body? Because people who have Down syndrome have an extra chromosome, the body's natural balance is upset. This upset in balance leads to various birth defects and problems of growth and development. Many of the birth defects in people who have Down syndrome are like those seen in other children. People with Down syndrome simply are likely to have birth defects more often than others. What are the signs and symptoms of the condition? The following characteristics can be seen in people with Down syndrome: smaller-than-average physical size poor muscle tone, which tends to improve somewhat over time a small head, the back of which is flatter than average flat facial profile upward slant of the eye slits an extra fold of skin at the inner corners of the eyes small mouth with a tendency to protrude the tongue small hands with short fingers and a single crease across the palms congenital heart disease , or heart defects that are present at birth learning disabilities an IQ that is rarely higher than 50 (with normal IQ being around 100) faster aging process, with a tendency to develop diseases of aging, such as

14. DOWN'S SYNDROME NOMENCLATURE and after the effective date of this section, the term mongolism or mongoloid used as a synonym for the genetic disorder known as down's syndrome shall not http://members.aol.com/StatutesP8/35.Cp.47D.html

Unconsolidated Pennsylvania Statutes HEALTH AND SAFETY (Title 35) DOWN'S SYNDROME NOMENCLATURE (a) On and after the effective date of this section, the term "mongolism" or "mongoloid" used as a synonym for the genetic disorder known as Down's syndrome shall not be utilized in any statute, local law, ordinance, charter or rule or regulation promulgated or any publication published by the Commonwealth or any political subdivision thereof, and the term Down's syndrome, shall be used in place of "mongolism" or "mongoloid" when referring to such genetic disorder. (b) Wherever the term "mongolism" or "mongoloid" appears in any such statute, local law, ordinance, charter or rule or regulation or publication enacted, promulgated or published prior to the effective date of this act such term shall be deemed to refer to the genetic disorder known as Down's syndrome. (c) Whenever the term "mongolism" or "mongoloid" appears in any publication of the Commonwealth or any political subdivision thereof published prior to the effective date of this section which is to be republished on or after January 1, 1981 such republication shall be made only after such terms are deleted. The complete Pennsylvania Statutes are not yet available on the web. However, selected portions have been made available and can be accessed by

15. MEDLINEplus 'Quadruple' Test May Better Down Syndrome Screening down syndrome is the most common genetic cause of mild to moderate mental impairment,and occurs in about 1 in 800 live births. The disorder arises from an http://www.nlm.nih.gov/medlineplus/news/fullstory_11899.html

16. Virtual Children's Hospital: CQQA: Down Syndrome What is down syndrome? down syndrome is a genetic disorder. What causes it? QuickAnswers down syndrome is a genetic disorder. It is caused by a birth defect. http://www.vh.org/pediatric/patient/pediatrics/cqqa/downsyndrome.html

Pediatrics Common Questions, Quick Answers Down Syndrome Donna D'Alessandro, M.D. Lindsay Huth, B.A. Peer Review Status: Internally Reviewed Creation Date: May 2002 Last Revision Date: May 2002 Common Questions, Quick Answers What is Down syndrome? What causes it? Who can get it? ... Can it be prevented? What is Down syndrome? Down syndrome is a genetic disorder. What causes it? It is caused by a birth defect. The most common birth defect is when an infant is born with an extra chromosome. Chromosomes carry genes. Genes are the body's plan for growth and development. The extra gene affects the child's physical and cognitive (thinking) development. Who can get it? It can affect any infant. Babies born to mothers who are age 35 or older are at higher risk for Down syndrome than babies born to younger mothers. Parents who have had one child with Down syndrome are more likely to have another child with Down syndrome. What are the signs? Many signs are noticeable at birth. Children with Down syndrome will have at least some of these signs. They can include: Low muscle tone Small nose with a flat bridge Upward slant to the eyes Small ears Deep crease along the center of the palm Flexible joints Small hands, short fingers

17. Genetic Fault With Down Syndrome anomalies, such as nystagmus, make the head of every down syndrome person a is abnormalto some degree, testifying to the wide spread genetic disorder of the http://www.udaan.org/downsynd/downdx.html

DIAGNOSIS OF DOWN SYNDROME Return to Main UDAAN Page Return to main DOWN Page Presenting features The child with Down's syndrome is characterized by striking physical changes, low stature with delayed physical and mental milestones. The defects are widespread through the body. The condition is usually present from birth; physical growth is slow, and has stopped by the time the child is 15. Defective growth of the skull, leading especially to abnormalities of the base and the orbit, is responsible for the peculiarities of cranial shape. The appearance of these usually happy persons, mentally challenged to a variable degree is rather suggestive of a Mongol or of a fetus. The skull is small and round, and the junction of occiput (lower back part of skull) and back of neck flat; an epicanthic fold across each inner canthus, narrow tilted eye-slits and lids without lashes, red cheeks, fissured and often protruding tongue, stubby depressed nose with nostrils looking forward, irregular late-appearing teeth, coarse hair on the scalp, small facial bones and occasional neurological anomalies, such as nystagmus, make the head of every Down Syndrome person a disagreeable but ready index to his disorder. The whole body structure is abnormal to some degree, testifying to the wide spread genetic disorder of the condition. The limbs are lax with hyper-mobility at the joints. The feet are broad and clumsy. The hands have short fingers, with a special pattern between the base of the third and fourth fingers, and a crease across the palm). The abdomen has a protuberant belly.

18. Chromosome Abnormalities genetic disorder Corner Home genetic disorder Corner What are genetic disorders andone from a person with a chromosomal abnormality called down syndrome. http://gslc.genetics.utah.edu/units/disorders/whataregd/chrom.cfm

Genetic Science Learning Center at the Eccles Institute of Human Genetics University of Utah Home ... What are Genetic Disorders? Chromosome Abnormalities Chromosome Abnormalities A karyotype is a display of the chromosomes of a single cell . The chromosomes are spread out so that they all can be seen. They are stained with dyes to accentuate differences between the chromosomes, which is helpful in telling them apart. Below you will find two karyotypes, one normal, and one from a person with a chromosomal abnormality called Down Syndrome. These are the chromosomes of a normal karyotype. Try pairing the chromosomes yourself (as has been done for the Down Syndrome karyotype below). Enlarged view of normal chromosomes Down Syndrome results when three, rather than the normal two, copies of chromosome 21 are present in each cell. An abnormal number of chromosomes results when a mistake called nondisjunction occurs in the production of eggs or sperm. In nondisjunction, the paired copies of a particular chromosome do not separate at cell division and therefore, two copies of a chromosome are placed in a gamete, rather than one. If that gamete is used in a fertilization event, its two chromosomal copies are united with one chromosomal copy from the other gamete, resulting in an embryo with three copies of that particular chromosome (called trisomy ). Whereas in most cases three copies of a chromosome are lethal to the embryo, in certain cases an extra or missing chromosome is tolerated. However, such individuals usually have serious medical problems due to the imbalance in

19. What Are Genetic Disorders? Some people say that there are disorder genes. We can separate genetic disorders intofour categories down syndrome and Turner's syndrome are examples of this http://gslc.genetics.utah.edu/units/disorders/whataregd/

Genetic Science Learning Center at the Eccles Institute of Human Genetics University of Utah Home ... Genetic Disorder Corner What are Genetic Disorders? What are Genetic Disorders? Genetic disorders are medical conditions caused by mutations in a gene or a set of genes. Mutations are changes in the DNA sequence of a gene. They can happen at any time, from when we are a single cell to when we are 90. Or even older! Some people say that there are disorder genes. It is not a gene, or genes, however, that cause the illness, but a mutation that causes the normal genes to operate improperly. It is better to say that there are mutated genes that cause genetic disorders. We can separate genetic disorders into four categories: Chromosome Abnormalities In some disorders, entire chromosomes , or large segments of them, are missing, duplicated, or otherwise altered. Down Syndrome and Turner's Syndrome are examples of this type of disorder. More about chromosome abnormalities Single-Gene Disorders Some disorders result when a mutation causes the protein product of a single gene to be altered or missing. An example of this kind of disorder is sickle cell anemia. More about single-gene disorders Multifactorial Disorders Multifactorial disorders result from mutations in multiple genes, often coupled with environmental causes. The complicated bases of these diseases make them difficult to study and to treat. Heart disorder, diabetes and cancer are examples of this type of disorder.

20. Genetic Disorders: The Links To Diet Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders Category Health Conditions and Diseases genetic disorders...... that mothers of children with down syndrome have an in part, by a common geneticvariation in acid supplementation will reduce the incidence of the disorder. http://www.ctds.info/genetic_disorders.html

Con nective Tissue Disorder Home Search Site Map ... Links Genetic Disorders The Links to Diet Read my Contents: Overview Genetic Disorders and Birth Defects Treatable Through Diet Prenatal Nutrition and Birth Defects Genetic Disorders, Birth Defects and Logic ... General Information on Genes, Nutrition and Disease Recommended Book: Genetic Nutritioneering by Jeffrey S. Bland with Sara H. Benum. How you can modify inherited traits and live a longer, healthier life. An interesting book about using nutrition and other lifestyle changes to overcome inherited health risks. ( more books Overview Many researchers and support groups state that birth defects and genetic disorders, especially connective tissue disorders such as Marfan syndrome osteogenesis imperfecta and Ehlers-Danlos syndrome , can't possibly be cured through diet because they are inherited genetic disorders. This conclusion is invalid simply because many birth defects and inherited genetic disorders have been found to be improved, or even cured, through diet. The old school of thinking that a birth defect or inherited disorder had to be caused by a single gene is no longer widely held in medical circles. The breakthrough concept in research is that many birth defects and inherited disorders are influenced by both genes and environmental factors, especially nutrition. Genes may make people susceptible to certain defects and disorders, but they are often only a part of the picture.

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