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28 Cards in this Set
- Front
- Back
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Turner Syndrome
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Monosomy - XO
-Sterile, short, webbed necks, heart problems, retardation -Most die before birth -Unaffected life span |
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YO
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Monosomy
-Lethal Mutation |
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Klinefelter’s Syndrome
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Trisomy - XXY
-Small testes, low testosterone, sterile -Have barr bodies |
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Jacob's Syndrome
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Trisomy - XYY
-Usually fertile, some retardation, Antisocial -Sociopath, criminals and serial killers |
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Trisomy X
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Trisomy - XXX
-Usually normal, underdeveloped sex characteristics, sterile |
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Down Syndrome
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Trisomy #21
-nondisjuntion during meiosis -correlated to mother -Facial dysmorphology, poor muscular tone, mental retardation, usually due of cardiac dysfunction -Incidence rises sharply with maternal age |
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Patau
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Trisomy #13
-nondisjunction during meiosis -Small head, small or missing eyes, cleft palate, extra fingers, heart defects, abnormal genetalia, retardation - dont survive |
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Edwards Syndrome
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Trisomy #18
-nondisjunciton during meiosis -Severe mental & developmental retardation, small face, small sternum, clenched fingers & toes. -don't survive |
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Cri du Chat
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Deletion #5 short arm
-Moon-shaped face, abnormally developed glottis and larynx leading to eerie cry, gastrointestinal & cardiac complications, viable (normal lifespan) |
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Bar-eyed Drisophila
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Duplication
-Slit like eyes, instead of normal oval-eyed shape |
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Charcot-Marie Tooth Disease
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Duplication #17
-Neurological, neurons are stricken off of the myelin sheath, muscle weakness, foot deformities. |
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Philadelphia Chromosome
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Reciprocal Translocation #9/22
-Chronic myeloid leukemia |
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Burkitts’s Lymphoma
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Reciprocal Translocation #8/2,14,22
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Familial Down Syndrome
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Robertsonian Translocation #14/21
-Same as down syndrome -5% of cases of down syndrome |
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Fragile X Syndrome
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1) Translocation - X
or 2) Trinucleotide Repeat Mutation (CGG) -X-Linked Dominant -Mental retardation, speech delay, mood disorder (bipolar), Schizophrenia, big balls (macroorchidism), high arch palate -Dominant (so you only need 1) Moon-shaped face, abnormally developed glottis and larynx leading to eerie cry, gastrointestinal & cardiac complications, viable (normal lifespan) |
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Sickle Cell Anemia
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Nucleotide Substitution - HbA gene
-Autosomal Recessive -Glu--->Val -Cells become sickle-shaped & clog vessels, poor circulation |
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Hungtingtons Disease
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Trinucleotide Repeat Mutations (CAG)
-Autosomal Dominant -Mostly inherited by the father -36-39 repeats have later onset >40 are seriously affected -Increased decay rate of neurons, brain deterioration, spastic uncontrolled movements |
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Myotonic Muscular Dystrophy
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Trinucleotide Repeat Mutations (CUG)
-Mostly inherited by the mother -38-49 repeats are minimal >50 severe muscle wasting, cataracts, muscle weakness, extensive myopathy, mental retardation |
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Familial Hypercholersterolemia
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Mutation in LDL receptor gene
-Autosomal Dominant -High LDL in the blood, narrowing arteries, heart attacks -Heterozygotes: 2-3X elevated plasma level -Homozygotes: 5-10X elevated plasms levels -Most frequent mendelian disorder 1:500 |
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Von Hippel-Lindau Disease
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Mutation in VHL (tumor suppressant gene)
-chromosome #3 -Autosomal Dominant Growth of tumors in the body & formation of cysts on internal organs, high risk for cancer |
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Neurofibromatosis (NF)
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Mutation in NF1 or NF2 tumor suppressor genes on chromosome #17 or #22
-Autosomal Dominant -Affects how nerve cells form and grow, cause tumors on nerves -Have barr bodies |
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Marfan Syndrome
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Mutation in fibrillin-1 gene on chromosome #15
-Autosomal Dominant -Results in too much growth of the long bones of the body, risk for aortic aneurism -Example of Expressivity |
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Cystic Fibrosis
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Mutation in CFTR gene on chromosome #7
-Autosomal Recessive -Thick mucus build up in the lungs & digestive tract, pneumonia, bronchitis, death by lung complication Most commom lethel genetic disorder |
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PKU
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Missing enzyme to break down phe
-Autosomal Recessive -Builds up & interferes with nervous system leading to mental retardation -Restricted diet |
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Tay Sachs Disease
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Mutation in HEXA gene on chromosome #15 (encoding hexosaminidase)
-Autosomal Recessive -Fatty substance builds up in neurons,nerborns are normal at first, but then exibit loss of nervous function -Heterozygotes do not have disorder but are protected from tuberculosis |
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Duchenne muscular dystrophy
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-mutation in dystrophin gene
-x-linked recessive -men rarely live passed 25 so they dont pass the x down to daughter. |
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Prader-Willi Syndrome
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-deletion of gene in PATERNAL #15
----> so MATERNAL is undeleted --> genomic imprinting -mental retardation -eating disorder -obesity -diabetes |
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Angelman's syndrom
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-deletion of gene in MATERNAL #15
----> so PATERNAL is undeleted --->genomic imprinting -mental retardation -involuntary muscle contraction, seizures |
