Term
| About how many genes are in the human genome? |
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Definition
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Term
| What type of genetic diseases are Huntington's, osteogenesis imperfecta, achondroplasia, and tuberous sclerosis? |
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Definition
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Term
| What do diseases that have an autosomal recessive almost always result from? |
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Definition
| The loss of function of the affected gene |
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Term
What type of disease is cystic fibrosis? |
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Definition
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Term
| In what diseases can you see mucous strands on the cornea due to decreased water but not decreased mucus? |
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Definition
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Term
| What type of genetic disorder is hemophilia? |
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Definition
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Term
| What type of syndrome is fragile X? |
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Definition
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Term
| What type of genetic disorder is Lieber's hereditary optic neuropathy? |
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Definition
mitochondrial inheritance |
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Term
| What is the permanent dilation of blood vessels usually creating small red focal lesions usually in the skin or mucous membranes? The blood vessels are squiggly. |
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Definition
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Term
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Definition
| swelling of the optic nerve head |
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Term
| What type of genetic trait is an ABO blood type an example of? |
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Definition
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Term
| What do you call genetic disorders that result from the change of a single nucleotide? |
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Definition
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Term
| What is Mendel's first law? |
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Definition
| Two members of the gene pair separate from each other in the gametes, so half the gametes carry one member of the pair and the other half carry the other member of the pair |
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Term
| What type of mutations often cause premature termination of translation? |
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Definition
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Term
| What is the nondisjunction of chromosomes during mitotic division in the early embryonic period when two different cell lines are derived from a single fertilized egg. It usually involves sex chromosomes. |
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Definition
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Term
| What is the unequal separation of chromosomes during the first phase of meiosis? |
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Definition
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Term
| What is a chromosome or chromatids with noncentrally located centromeres producing chromosome arms of unequal lengths? |
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Definition
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Term
| What is the transfer of chromosome parts between nonhomologous chromosomes? |
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Definition
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Term
| What do you call a translocation when the translocated fragment is functional? |
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Definition
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Term
| What type of chromosome translocation refers to the balanced transfer of chromosome parts between acrocentric chromosomes? |
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Definition
| Robertsonian translocation |
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Term
| What type of chromosomal alteration is cri du chat syndrom? |
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Definition
| Deletion, it produces mental retardation and a cat like cry |
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Term
| What is it called when a section of DNA gets snipped off and reinserted in the wrong way? |
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Definition
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Term
| What type of DNA change is Williams syndrome an example of? |
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Definition
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Term
| What type of DNA change is cystic fibrosis an example of? |
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Definition
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Term
| What is the most common Mendelian disorder that causes mental retardation? |
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Definition
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Term
| What type of mutation refers to the loss or gain of a whole chromosome? |
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Definition
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Term
| What type of mutation effects one or more genes and a point effecting a single (affecting a single base substitution) or Mendelian disorder? |
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Definition
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Term
| Where are Barr bodies located? |
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Definition
| on the nuclear membrane of the cell |
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Term
| What cells are used to test for the presence of Barr bodies and hence qualification for Olympic events as females? |
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Definition
Barr bodies are visible in sqamous cells by scraping the buccal mucosa |
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Term
| What autosomal dominant liver disease causes and extra circular line on the cornea? |
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Definition
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Term
| What are Haab's stria and what are they associated with? |
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Definition
| breaks in Descemet's membrane, associated with primary congenital glaucoma |
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Term
| What autosomal recessive disease is characterized by corneal clouding, enlarged cornea, and is autosomal recessive? |
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Definition
| Primary congenital glaucoma |
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Term
| What X linked disease is characterized by corneal clouding, corneal opacities, and cataracts? |
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Definition
| Lysomal Storage Diseases (over 40+) |
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Term
| What autosomal dominant connective tissue disease is characterized by a dislocated lens, glaucoma, and cataracts? |
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Definition
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Term
| What autosomal dominant neurocutaneous disorders result in lisch nodules? |
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Definition
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Term
| What inherited autoimmune inflammatory disease causes corneal abrasion? |
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Definition
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Term
| What autosomal neuromuscular disease results in corneal cataracts? |
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Definition
| Myotonic muscular dystrophy |
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Term
| What autosomal recessive disease results in the accumulation of copper in the tissues and Kayser Fleischer rings around the cornea? |
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Definition
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Term
| What disease results from an insertion of four nucleotides, is lethal, and causes a cherry red macula? |
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Definition
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Term
| Which form of albinism is found mostly in males, oculocutaneous or ocular albinism? |
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Definition
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Term
| In what genetic disease do babies put out black urine? |
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Definition
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Term
Would you dilate a patient with Down's syndrome? |
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Definition
| No, they have bad reactions to this. |
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Term
| Which type of Down's syndrome causes a cleft lip? |
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Definition
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Term
What is the technical term for the water head baby? |
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Definition
| Monosomy X-Hydrops Fetalis |
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Term
| Which disease can cause the formation of bone spicules in the retina, atrophy, and pigment infiltration of the inner retinal layers? |
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Definition
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