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Transcript of Genetic Disorders
Princess Rockefeller Genetic Disorders Presented to you by Princess R. and Monera T., we will be discussing genetic disorders, both rare and common, with the hopes of making more people aware of these disorders Thank you for viewing our presentation. We hope as more people are informed about these disorders, there will be more research that will help prevent and treat these disorders. Common Disorders Chromosomal Complications Cystic Fibrosis Cystic Fibrosis is a genetic disorder that causes abnormal sticky mucus to build in the lungs, digestive tracts, and sometimes, the pancreas.
It is a very life-threatening disorder that may affect sweat glands and reproductive organs in males.
This disorder is most common in Caucasian males and an estimated 1 in 29 Caucasian Americans carry the gene.
Most children are diagnosed at the age of 2, while a few are diagnosed at age of 18. The latter tend to have more mild symptoms. Symptoms -is a disease that is deadly to the nervous system that generally affects infants and toddlers. This disease is passed down through generations. Symptoms:
-Mental illness TD onset age is only early
onset. TD only affects infants,
toddlers and juveniles. salt - tasting skin
Frequent lung infections
Frequent greasy stool and difficulty in bowel movements In some rare cases TD has an adult
stage but its very rare. TD is most common in the Ashkenazim
Jewish population. In this population
1 in every 27 people carry this disease. Tay Sachs Disease Genetic Basis This disorder is autosomal recessive
It is inherited when a mutated cystic fibrosis transmembrane regulator (CFTR) is inherited from both parents. CC - CFTR normal
Cc - CFTR normal (carrier
cc - mutated CFTR (cystic fibrosis Prognosis Diagnostic tests include sweat chloride tests, fecal fat tests, CT scan, and secretin simulation.
Treatments include inhaled medicines to open airways, antibiotics to prevent infections, high concentrations of salt solutions, and DNA enzyme therapy to thin mucus.
Median survival age in U.S. is 37 years. Death is usually cause by lung complications References About CF: Causes, Signs & Symptoms of Cystic Fibrosis | CF Foundation. (n.d.). Cystic Fibrosis Foundation - Home. Retrieved December 29, 2012, from http://www.cff.org/AboutCF/
Cystic Fibrosis-Cause. (2011, June 15). WebMD Children's Health Center - Kids health and safety information for a healthy child. Retrieved December 30, 2012, from http://children.webmd.com/tc/cystic-fibrosis-cause
Cystic fibrosis - PubMed Health. (2012, May 16). National Center for Biotechnology Information. Retrieved December 29, 2012, from http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001167/ Down Syndrome Down Syndrome is the most common genetic disorder.
DS is occurs when an infant is born with an extra pair chromosomes (47, instead of 46).
People with DS usually have slower physical/mental development, and some degree of mental retardation as well as poor development in motor skills
This disorder varies by racial ethnicity. Symptoms tiny white spots on iris
Poor muscle tone
Eyes slanted upwards
Flat Nasal Bridge
Protruding/large tongue Genetic Basis Prognosis Diagnosis is usually done in the fetus and can be done with ultrasound
The treatment of DS involves therapists and special educators who will help in the development of motor skills, language, self-help, and social skills
The average life expectancy for someone with DS is 55 years, many living in to their 60s and 70s. In Down Syndrome, the person affected has an extra chromosome.
This condition is cause by a random event of mutation
The chance of bearing offspring with Down Syndrome increases as women get older References CDC - Birth Defects, Down Syndrome - NCBDDD. (2011, May 8). Centers for Disease Control and Prevention. Retrieved December 30, 2012, from http://www.cdc.gov/ncbddd/birthdefects/DownSyndrome.html
Down syndrome - Genetics Home Reference. (2012, December 17). Genetics Home Reference - Your guide to understanding genetic conditions. Retrieved December 29, 2012, from http://ghr.nlm.nih.gov/condition/down-syndrome
Down syndrome: Symptoms - MayoClinic.com. (2011, April 7). Mayo Clinic. Retriehttp://www.mayoclinic.com/health/downved December 30, 2012, from -syndrome/DS00182/DSECTION=symptoms
What Is Down Syndrome? What Causes Down Syndrome?. (2009, April 8). Medical News Today: Health News. Retrieved December 30, 2012, from http://www.medicalnewstoday.com/articles/145554.php \ Phenylketonuria (PKU) People with phenylketonuria are incapable of breaking down an essential enzyme called phenylalanine.
Phenylalanine is found in foods with protein, but people affected with PKU may still eat foods containing protein.
PKU causes phenylalanine to build up, and when it does, it affects the central nervous system and may cause brain damage
Diagnosis of PKU is usually at newborn age, when PKU testing is required. Symptoms Phenylalanine, an amino acid. plays a role in the production of melanin. so infants are born with lighter skin/hair/eyes than normal unaffected siblings.
Head size is smaller than normal Genetic Basis Prognosis The gene that creates PAH is mutated
The mutated gene must be inherited from both parents (autosomal recessive) in order for the infant to be affected PP - unaffected (non-carrier)
Pp - Unaffected (carrier)
pp - Affected (PKU) There are blood and urine tests that test for numerous substances, especially for abnormal levels of phenylalanine.
Life-long adherence to low-phenylalanine diet. Fish oil to replace fatty acid chain
Women with PKU trying to become pregnant must have low-phenylalaline 3 months before conception.
School functioning may be mildly impaired.
Normal lifespan is expected References Diagnostic Tests for Phenylketonuria - RightDiagnosis.com. (n.d.). Right Diagnosis. Retrieved December 29, 2012, from http://www.rightdiagnosis.com/p/phenylketonuria/tests.htm
Phenylketonuria - PubMed Health. (2011, June 17). National Center for Biotechnology Information. Retrieved December 29, 2012, from http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002150/
Phenylketonuria: Tests and diagnosis - MayoClinic.com. (2011, November 17). Mayo Clinic. Retrieved December 29, 2012, from http://www.mayoclinic.com/health/phenylketonuria/DS00514/DSECTION=tests-and-diagnosis Edwards Syndrome (Trisomy 18) Edwards Syndrome, also known as Trisomy 18 is rare genetic disorder where a portion of chromosome 18 is duplicated. There would be a third copy instead of the usual 2 copies.
80% of those affected are females.
Many affected tend to have heart and kidney problems, breathing problems, and severe learning disabilities. Symptoms Small abnormally shaped head, low-set ears
smooth feet with rounded base
Hernias in wall of belly
bone abnormalities Genetic Basis Prognosis Trisomy 18, Edwards Syndrome, is rarely inherited
Mosaic Trisomy is when some cells, but not all, have an extra copy of chromosome 18.
Translocation Trisomy 18 is inherited, where there is a rearrangement of genetic material between chromosome 18 and another chromosome, but there is no extra material, so there are no symptoms Blood tests are used to check for abnormal chromosomes.Majority do not live past their first year of life.
Most infants affected are miscarried of stillborn.
5-10% live beyond first year of life.
The average lifespan is 2 months Edward's Syndrome - Facts and Information. (n.d.). Disabled World News and Disability Information. Retrieved December 29, 2012, from http://www.disabled-world.com/disability/types/edwards-syndrome.php
Edward's syndrome - NHS Choices. (n.d.). NHS Choices - Your health, your choices. Retrieved December 29, 2012, from http://nhs.uk/conditions/edwards-syndrome/Pages/Introduction.aspx
LaraSig | Health Professional Student Trainng. (2012, December 31). Most accessible online source to enhance clinical skills and knowledge! | LaraSig. Retrieved January 1, 2013, from http://www.larasig.com/node?page=441 Reference Turner syndrome Turner Syndrome is a genetic condition when a female does not have a complete pair of X chromosomes.
This loss of genetic material affects the development in females.
Every 1 in 2,500 newborn girls are affected Symptoms Broad chest (like a shield)
Wide/webbed neck (infants)
Swollen hand and feet (infants)
Absent or incomplete development in puberty.
Absent menstruation Genetic Basis Prognosis In Turner Syndrome, a chromosome is missing, therefore there are only 45 chromosomes instead of the the normal 46 chromosomes
It is caused by a random event in mutation(randomly inactivated during the first of life - <200 embryonic cells.
Turner syndrome is rarely inherited.
Turner Syndrome can be inherited if a defected chromosome is stable enough to pass through from mother to the infant. Turner Syndrome is diagnosed after checking blood hormone and/or through karyotyping.
Turner Syndrome is most evident around age 5, but may be diagnosed at any stage in life.
Treatments include estrogen replacement therapy.
Females who wish to become pregnant should consider a donor egg.
Those with Turner Syndrome can have a normal life when carefully monitored by a doctor References Genetic Features of Turner Syndrome. (n.d.). Turner Syndrome - Home. Retrieved December 29, 2012, from http://turners.nichd.nih.gov/genetic.html
Turner Syndrome: Diagnosis and Management - August 1, 2007 - American Family Physician. (2007, August 1). Home Page -- AAFP. Retrieved December 29, 2012, from http://www.aafp.org/afp/2007/0801/p405.html
Turner syndrome - Genetics Home Reference. (n.d.). Genetics Home Reference - Your guide to understanding genetic conditions. Retrieved December 29, 2012, from http://ghr.nlm.nih.gov/condition/turner-syndrome
Turner syndrome - PubMed Health. (2012, March 30). National Center for Biotechnology Information. Retrieved December 29, 2012, from http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001417/ Chronic Myelegenous leukemia (CML) CML is an uncommon type of cancer of the blood cells that progresses more slowly than acute forms of leukemia.
CML is more common in older males.
CML affects more Caucasians than other races, yet more African- Americans die from the condition.
CML affects stem cells in the bone marrow Symptoms People with CML may suffer:
Easy and perhaps excessive bleeding
loss of weight and appetite.
Paleness and fatigue
An enlarged Spleen Genetic Basis Prognosis CML is not inherited at all.
CML is caused by a mutation that swaps genetic material of chromosomes 9 and 22 together. There is reciprocal translocation, leaving chromosome 22 shortened. Symptoms show when the child is 3-6 months old. The nerve system damage starts when
the child is in the womb. Tay Sachs is a disease that is inherited. This has an autosomal recessive pattern. The gene is a result of a mutation which means both parents with the autosomal recessive condition carry's the a copy of the mutated gene. Even though they carry the gene it doesn't appear physically or mentally on them, but it appears on the child. The disorder is a result by a defective gene on chromosome 15. T= normal
tt=disease Tt x tt Tt Tt tt tt T t t t 50% -normal (carrier)
50% -disease Genetic Basis There are no treatments to control TSD yet, but there are treatment for the seizures. Prognosis Small kids may need a feeding tube. Life expectancy maximum is about only 5 years of age. There are only simple examinations that to test the TSD, -a physical examination, -ask about family history, -eye exam, and a Enzyme analysis of blood or body tissue for hexosaminidase levels. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002390/
http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm REFERENCES Sickle Cell Anemia -SCA is a disease that in which red blood cells formed in abnormal shapes. The normal shape for red blood cells is disc shaped, but with SCA they are crescent or moon shaped. This disease is passed down through families. SCA doesn't have an age onset, anyone can get it. Symptoms
-crises (painful episodes)
-shortness of breath
-yellowing of eyes and skin 1 in 500 African Americans and 1 in 1,000 to 4,000 Hispanic Americans have this disease. A unique feature is that if one parent has the sickle cell gene and they mate with a normal gene person, the kid will come out with a condition called sickle cell trait. SCT is different from SCA because people with SCT do not have the SCA disease but they can still pass the sickle hemoglobin gene to their children. SCA affects people worldwide. It affects 70,000 to 80,000 Americans today SCA is the most common inherited blood disorder in the US Genetic Basis This disease is inherited from your parents. This has an autosomal recessive pattern. This disease is caused by a mutated gene on chromosome 11. Prognosis Treatment for Crisis
-plenty of fluids Treatment Managing Complications
-Dialysis or Kidney Transplant
-Surgery for eyes
-Hip replacement CURE- Bone marrow or Stem Cell Transplants People with this disease die between the ages of 20-40, but NOW with more research and better medications , people live their 50's. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001554/#adam_000527.disease.prognosis
http://learn.genetics.utah.edu/content/disorders/whataregd/sicklecell/ Huntington Disease -is a ongoing brain disorder. It causes individuals to have uncontrolled moments, emotional problems and loss of their thinking ability. Symptoms
-involuntary jerking movements
(called chorea) Age onset are adults, children and adolescence. Adults suffer from depression, poor coordination, and
trouble making decisions. In adults HD can start in
their 30s to 40s. HD affects 3,000 to 7,000
people in the European
ancestry, Japanese, Chinese,
and the African descent. The early onset of HD moves quickly for the children and adolescences than the adults onset Children and adolescences suffer from slow movements
clumsiness, and frequent drooling. Genetic Basis HD is a disease that is inherited from your parents. Autosomal dominant disorder There is a mutated gene on
chromosome 4. You only need one mutated
gene to be affected by this disorder. Prognosis There is no cure but medications can lesson some symptoms. Family History
Sense of touch/balance Psychiatric evaluation
-coping skills Adults live about 15 to 20 years
Early onset lives about 10 to 15 years http://en.hdyo.org/eve/articles/50
http://www.medicinenet.com/huntington_disease/page2.htm Patau Syndrome (Trisomy 13) - is a genetic disorder when a person has 3 copies of genetic material from the chromosome 13, instead of two copies which is the normal amount.http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002625/
http://www.bcchildrens.ca/Services/MedicalGenetics/BasicGenetics.htm "Trisomy 13 - the presence of an extra (third) chromosome 13 in all of the body's cells. Trisomy 13 mosarcism - the presence of an extra chromosome 13 on some of the cells. Partial trisomy 13 - the presence of a part an extra chromosome 13 in the cells. Translocation trisomy 13 can be inherited, which can be passed by children. Onset age is newborns 1 out of every 10,000 get PS. Symptoms
-cleft lip or palate
-mental retardation (severe) Genetic Basis Not inherited, but a mix up during formation of eggs and sperm in the healthy parents. Too many chromosome 13 in the cells. Autosomal recessive A mutated extra gene Prognosis In their first days or weeks of life only 5-10% live past their first year. The treatment depends on child to child because of their different symptoms. MRI or CT scans can show the problem with the brain structure. Gastrointestinal x-ray or ultrasounds http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002625/
http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/genetics/trisomy.html Klinefelter Syndrome -is a syndrome in which the male has an extra X chromosome (XXY or XYX). Subtle characteristics become apparent when puberty hits. Symptoms
-develop more breast tissue than normals
-less muscular bodies
-less facial and body hair
-sterile (can't produce sperm)
-learning disabilities No onset age, males are just born
with this syndrome. ONLY OCCURS IN MALES Males with syndrome have 47 chromosomes
instaed of 46 chromosomes. One of the most common genetic abnormalities. This disorder is named after Dr. Harry Klinefelter, 1942 affects 1 in 500 and 1 in 1000 males. Genetic Basis Not is not sex linked. Mutation of an extra chromosomes. Autosomal recessive Prognosis No cure, only treatments. -Synthetic testosterone
-improve appearance of muscles
-increase energy and sex drive http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001420/
http://www.bcchildrens.ca/Services/MedicalGenetics/BasicGenetics.htm Prognosis Genetic Basis Cri-du-chat -is a syndrome that occurs when a piece of chromosome 5 is missing. Symptoms
-High pitched cry
(that sounds like a cat)
-small head size
-low birth weight
-heart defects Onset age is children and adults. 80% of the cases say that the
deletion of the gene comes
from the father sperm rather
than the mothers eggs. The name "cri-du-chat" is
French for the "cry of the cat". Sex linked Autosomal recessive This is not a mutation No treatment but therapy to improve language skills, motor skills and to help them develop as normal possible. Normal life expectancy http://www.nlm.nih.gov/medlineplus/ency/article/001593.htm
http://www.genome.gov/19517558 Lou Gehrigs Disease -ALS is a disease controls the nerve cells in the brain and the spinal cord that controls the voluntary muscle movement. Symptoms
-impairment of the arms & legs 93% of the disease affects
caucasians. It starts when you are 40-70 years
of age. The average age when people are diagnosed is at age 55. Some people symptoms start at the
age of their 20s and 30s. It affects men more than women. This disease can strike anyone. When people have this disease, they truly suffer
because the disease is a slow progress. Patients have to get a breathing tube. Genetic Basis 5 to 10% of the cases are inherited. But 90 to 95% not inherited. This disease is autosomal dominant (most cases) and recessive in least cases. It is caused by a mutation on a chromosome. Prognosis 20% live for more than 5 years or more.
10% live for more than 10 years or more.
5% live for more than 20 years or more. There is no cure but only blood test, breathing test, head CTs, MRI scans, and cervical spine CTs to help the disease. Also, Trihexyphenidyl or Amitriptyline are medicines to help with swallowing. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001708/
http://ghr.nlm.nih.gov/condition/amyotrophic-lateral-sclerosis Prognosis http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001767/
http://www.alz.org/alzheimers_disease_alternative_treatments.asp There is no cure, but only treatment for the behavior sympotoms and there is also therapy to help out with their memory. Genetic Basis This disease is autosomal dominant, (late onset) early onset is very uncertain. There is no mutation. Alzheimers Disease -A type of dementia (loss of brain function) that causes problems within the brain. Symptoms
-thinking It mostly in older people 5.4 million Americans live with AD 1 in 8 people have this disease. CML can be diagnosed by testing blood count (CBC).
CML is treatable with drugs that target abnormal enzyme responsible for faulty white blood cells, and would most likely be taken over a lifetime.
The median survival time of a patient with CML is 5 years after diagnosis.
50- 60% of those diagnosed are 64 years old.
The average age of death is at 75 years of age. References Chronic Myelogenous Leukemia (CML) Causes, Symptoms, and Treatment. (2011, June 14). chronic myelogenous leukemia (cml) symptoms article. Retrieved December 29, 2012, from www.medicinenet.com/script/main/art.asp?articlekey=107515
Chronic myelogenous leukemia (CML) - PubMed Health. (2012, March 4). National Center for Biotechnology Information. Retrieved December 29, 2012, from http://ncbi.nlm.nih.gov/pubmedhealth/PMH0001596
Chronic myelogenous leukemia - MayoClinic.com. (2010, October 30). Mayo Clinic. Retrieved December 29, 2012, from http://www.mayoclinic.com/health/chronic-myelegenous-leukemia/DS00564
Site, C. (n.d.). Chronic Myeloid Leukemia - SEER Stat Fact Sheets. SEER Web Site. Retrieved December 29, 2012, from http://seer.cancer.gov/statfacts/html/cmyl.html