Download - Genetic Disorders
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Genetic DisordersGenetic Disorders
A Collage of Multiple Syndromes
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Syndromes Covered:Syndromes Covered:Chromosomal Disorders
• Down syndrome (Trisomy 21)
• Edward’s syndrome (Trisomy 18)
• Patau’s syndrome (Trisomy 13)
• Klinefelter’s syndrome (XXY)
• Turner syndrome (XO)
• Super female syndrome (XXX)
• Super male syndrome (XYY)
• Cri du Chat (deletion on #5)
• Fragile X (duplication on X)
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Single Gene Disorders
• Sickle Cell Anemia
• Cystic Fibrosis
• Huntington’s Disease
• Autism (???)
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…And, Sex Linked Traits
• Color Blindness
• Hemophilia
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Chromosomal Disorders…are usually caused by an error in cell division
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Down Syndrome=Trisomy 21Down Syndrome=Trisomy 21
A young boy with Down syndrome
• members.aol.com/InitiativeDown/index.htm
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This is what a karyotype of a girl with downs syndrome would look like
www.millerandlevine.com/genome/six.html
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http://www.infobiogen.fr/services/chromcancer/IntroItems/PolyTri21Eng.html
Some physical characteristics of individuals with DS…Some physical characteristics of individuals with DS…
Mental/Cognitive???
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Edward’s Syndrome=Trisomy 18Edward’s Syndrome=Trisomy 18
Dakota, a young boy with Edward’s syndrome
www.childrenofpromise.net/dakotaphotos.html
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• Mental retardation
• Undescended testicles in males
• Prominent back portion of the head
• Small head (microcephaly)
• Low-set, malformed ears
• Abnormally small jaw (micrognathia)
• Small mouth
• Cleft lip/Cleft palate
• Upturned nose
• Narrow eyelid folds (
palpebral fissures)
• Growth deficiency
• Feeding difficulties
• Breathing difficulties
• Developmental delays
Characteristics of Edward’s SyndromeCharacteristics of Edward’s Syndrome
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A karyotype of a male with Edward’s syndrome
www.iupui.edu/~marrs/N100/ch10.html
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Patau’s Syndrome=Trisomy 13Patau’s Syndrome=Trisomy 13
Meet Nicholas Wright the very proud son of Mark and Jayne Wright of Hudson,
Illinois USA
Nicholas was born with Trisomy 13.
www.trisomyonline.org/wright.htm
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Characteristics of Patau’s SyndromeCharacteristics of Patau’s Syndrome
• Most embryos with trisomy 13 do not survive gestation and are spontaneously aborted.
• Of those surviving to term gestation, approximately 82-85% do not survive past 1 month of age, and 85-90% do not survive past 1 year of age.
• Central Nervous System malformations (no forebrain development)
• long term neurological disability, feeding difficulty, and frequent pneumonia and other respiratory infections.
• *There have been 5 cases reported in the medical history of patients living beyond 10 years of age
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www.tokyo-med.ac.jp/genet/cki-e.htm
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Klinefelter’s Syndrome (XXY)Klinefelter’s Syndrome (XXY)
William John Durfee, a patient with Klinefelter’s syndrome
tiger.towson.edu/~tmccor1/durf.htm
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Male w/Klinefelter’s Female w/ Turner www.anselm.edu/homepage/jpitocch/genbio/geneticsnot.html
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k-12.pisd.edu/currInst/science/Genetic/karyo-kline-xxy.htm
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Turner Syndrome (XO)Turner Syndrome (XO)
Karen, a patient with Turner Syndrome
www.geocities.com/kare_50273/aboutturners.html
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fig.cox.miami.edu/Faculty/Dana/25001_13.html
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sp.uconn.edu/~bi107vc/sp03/terry/division.html
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Super Female Syndrome Super Female Syndrome (Trisomy X)(Trisomy X)
Females with Trisomy X are healthy and cannot be distinguished from (XX) females excepts by karyotype (shown)
• http://www.biology.iupui.edu/biocourses/N100/images/XXXFemale.gif
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Super Male Syndrome (XYY Super Male Syndrome (XYY Syndrome)Syndrome)
This syndrome is not well characterized although males that have XYY tend to be slightly taller than average
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Other Genetic Disorders… Cri Other Genetic Disorders… Cri du Chat (Deletion on part of du Chat (Deletion on part of
#5)#5)• Characteristics:• “Cry of the cat," referring to the
distinctive cry of children with this disorder
• Abnormal larynx development, which becomes normal within a few weeks of birth
• Low birth weight • Respiratory problems
• Sometimes shortened lifespan…but usually normal life expectancy http://www.findhealer.com/glossary/images/
criduchat.gif
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Fragile X Syndrome: Duplication of a Fragile X Syndrome: Duplication of a piece of the X Chromosomepiece of the X Chromosome
• Most common form of mental retardation
• Hyperactivity• Short attention span• Negative response to touch• Hand-flapping• Hand-biting• Poor eye contact• Repetition of words/phrases• Double jointed• Large or prominent ears• Large testicles
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Single Gene Traits
Sickle Cell Anemia• Inherited blood disorder
(recessive)• Mostly affects people of
African ancestory• 1 in 12 African Americans have
it• Affects hemoglobin (which
carries oxygen in blood) and makes Red Blood Cells sticky
• Interesting correlation between sickle cell and increased resistance to malaria
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Cystic Fibrosis
• Inherited chronic disease that affects lungs and digestive system
• Defective gene causes the body to produce unusually thick, sticky mucus
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Huntington’s Disease
• Hereditary brain disorder that diminishes ability to walk, think, talk, and reason
• Onset usually between the ages of 30-45
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Tay-Sachs Disease
• Lipid accumulation in brain cells; mental deficiency; blindness; death in early childhood
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Autism
• 3 distinctive behaviors that characterize autism: -difficulties with social interaction
-problems with verbal and nonverbal communication
-repetitive behaviors or narrow, obsessive interests.
• These behaviors can range in impact from mild to disabling
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Sex-Linked Traits…linked to the sex chromosomes
• Color Blindness
• Hemophilia
• Both are usually found in males only- why??
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• Half shaded=carrier; If III-2 and III-3 have a child (I know...weird), what are the odds of it getting the “disease”?