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Genetics Exam


Which syndrome affects development and growth of nerve cell tissues because tumors grow on nerves on or under the skin anywhere in the body? Neurofibromatosis
What is the term for multiple birthmarks in Neurofibromatosis? "cafe-au-lait"
What is Homozygous? Carry identical genes for a trait.
Which syndrome causes an increase in blood phenylalanine? Phenlyketonuria Syndrome (PKU syndrome)
Individuals with this syndrome will die before the age of five. Tay-Sachs Syndrome
X-linked inheretance means that the gene causing the trait or disorder is located on the X chromosome. (T or F) #1 True #1
Lisch nodeles are small brown tumors often on the iris in people with NF-1. (T or F) #2 True #2
Autosomal dominant inheritance means that males and females are equally affected, and "dominant" means that only one gene is necessary to have the trait. (T or F) #3 True #3
This syndrome is more commonly found in Ashkenazi Jews Tay Sachs sydrome
Sickle cell anemia is one of the most common inherited single-gene disorders in African Americans (T or F) #4 True #4
A trait that is inherited as an "X-linked recessive pattern" means that women are almost never affected. (T or F) #5 True #5
Which syndrome is an inherited disorder characterized by rapidly progressive muscle weakness which starts in the legs and pelvis and later affects the whole body. Duchenne Muscular Dystrophy
The classic manifestation of this X-linked disorder is sever self-mutation leading to the loss of lips and fingers from biting, visual loss from rubbing the eyes, and any number of other injuries. Lesh-Nyhan Syndrome
Karyotyping is the process in which photographs of the chromosomal makeup of a cell is performed. (T or F) #6 True #6
What are Autosomes? All chromosomes except the 23rd pair.
Which syndrome has the most common clinical consequence found involving non-disjunction of autosomes? Down Syndrome
"Cross Over" occurs during the cell division process of meiosis in which chromosomes share genetic information. (T or F) #7 True #7
What would be the outcome for an autosomal dominant disorder if a heterozygous individual has children with an unaffected homozygous individual? There is a 1 in 2 risk that the child will have the disorder.
This syndrome is a connective tissue disorder in which the walls of the major arteries are weakened. Marfan Syndrome
Meiosis differs from mitosis primarily because there are two cell divisions in meiosis, resulting in cells with a haploid number of chromosomes. (T or F) #8 True #8
This syndrome leads to tumors of the auditory nerves on both sides of the body. The tumors are usually benign, but they often lead to progressive hearing loss as the person grows. Neurofibromatosis--2
What is Nondisjunction? The failure of two members of a homologous pair of chromosomes to separate during meiosis.
What is Translocation? When chromosomes exchange parts with other chromosomes.
What is Mosaicism? When different cells have a different genetic makeup.
Rett Syndrome This is a childhood neurodevelopmental disorder that happens in four stages-- affects females almost exclusively and leads to a loss of purposeful use of the hands, loss of gait, seizures, and mental retardation.
What would be the outcome for an X-linked dominant inheritance if the woman has children with an unaffected man? 50% of the female children will be affected 50% of the males will be affected
X-linked inheritance means that the gene causing the trait or disorder located on the X chromosome. (T or F) #9 True #9
The person with this disorder cannot process the sugar galactose. Galactosemia
This disorder is most common in the Caucasian population: Cystic Fibrosis
There is no cure for this disorder. The child dies by age 4 or 5. Tay-Sachs
This is a blood disease (anemia) that occurs mostly in Italian, Greek, Middle Eastern, Southern Asian, and African ancestry. Thalassemia
Which foods are appropriate for a person with PKU? no proteins! Green beans, Oat meal, Orange Juice, Pasta
What is a highly penetrant gene? A gene that will express regardless of environmental effects
This person with this disorder is tall, thin, with tapering fingers. They have cardiac issues. Marfan's Syndrome
This is a group of two genetic disorders with skin, brain, and kindey problems. Tuberous Sclerosis
These depigmented or hypopigmented white lesions appear anywhere on the body. Ash Leaves
These appear on the lower back as raised patches of the skin. Shagreen Patches
What are the categorical causes of mental retardation and developmental dissablities? Biological and Environmental
When a couple becomes pregnant what is the chance their child will have a birth defect? 3-4 in every 100.
What does phenotype mean? Physical Appearance... or "the end product when you put all the puzzle pieces together"
What does genotype mean? the Genetic composition of an individual.
Which word describes a trait given to a person by their parents? Inheritance
Genes determine a persons trait (T or F) #10 True #10
A persons eye color is their.... Phenotype
Genes found in pairs are called Alleles (T or F) #11 True #11
Males and Females are equally likely to have the same autosomal genes. (T or F) #12 True #12
The last pair of chromosomes determine a persons sex 23rd pair. (T or F) #13 True #13
Autosomal Recessive Disorder means both recessive genes gives disorder
How many chromosomes does each human cell contain? 23 pairs... or in another words 46 individual chromosomes. 23 from mom, 23 from dad.
Created by: el_millor
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