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Study guide test
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| Question | Answer |
|---|---|
| What does phenotype means? | Physical appearance of genetic trait. |
| what does Genotype means? | Genetic composition of an individual. |
| Which word describes a trait given to a person by their parents. | Inheritance |
| Genes determine a persons traits | True |
| A person's eye color is their... | Phenotype |
| Genes found in pairs are called alleles | True |
| Males and females are likely to have same autosomal gene | True |
| The last pair of chromosomes (23rd pair determine a person's sex) | True |
| Autosomal recessive disorder means... | Both recessive genes gives disorder |
| How many chromosomes does each human cell has | 46 chromosomes / 23 pair chromosomes |
| Which syndrome affects cleve and growth of nerve cell tissue because tumors grow in nerves or under the skin anywhere in body. | Neurofibromatosis |
| Autosomal recessive genes what would be the outcome if the mother is the career and father normal. | 50% Normal / 50% Chance of carreer |
| Autosomal dominant genes, the mother is the career and the father is the career affected... | 25% Sick or death / 50% sick / 25% Normal |
| What is the term for multiple birthmarks in Neurofibromatosis? | Cafe-au-lait |
| What is Homozygous? | They carry identical genes for traits. |
| Which syndrome causes increase in blood phenylalanine? | Phenylketonuria Syndrome |
| Individuals with this syndrome will die before age five.. | Tay-Sachs Syndrome |
| X linked inherited means that the gene causing the trait disorder is located on the X chromosome? | True |
| Lisch nodeles are small brown tumors on the iris in people with NF-1? | True |
| Autosomal dominant inheritance means that means and females are equally affected and "dominant" means that one gene is necessary to have the traits? | True |
| Your best friends, Audette and Albert, just married and plan to have a baby within a year. Both consider themselves to be Ashkenazi Jewish decent.. | Ask your Dr. about career testing and prenatal diag for Tray Sack |
| Sickle cell anemia is one of the most common, inherited single cell disorders in African American | True |
| A trait that is inherited as an "X-linked recessive pattern" means that the women are almost never affected? | True |
| which syndrome is an inherited disorder characteristic by rapidly progressive muscle weakness which starts.. | Douchenne Muscular Dystrophy |
| Manifested for this X linked disorder is severe self-mutilation leading to the loss of lips,from biting, visual loss from rubbing the eye and any number of injuries. | Lesh-Nyhan Syndrome |
| Karyotyping is the process in which photograph of a chromosomal make up of a cell performance? | True |
| What are Autosomes? | All chromosomes except the 23rd number |
| which syndrome is below is 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? | True |
| What would be the outcome for an autosomal dominant disorder if heterozygous individual has children with an unaffected humozygous.. | There is 1 in 2 risk that the child will have the disorder |
| Autosomal dominant- only one allele is needed to be sick | Heterozygous Nn |
| This syndrome is a connective tissue disorder in which the walls of the artery are weaken | Marfan syndrome |
| Meiosis differs from mitosis primarily cause there are two cell divisions in meiosis, resulting in cells which a haploid number of chromosomes? | True |
| What is Nondisjuction? | 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 make-up |
| Childhood nerodevelopmental disorder that happens in four stages-affect females almost exclusively and leaps to the loss of purposeful use of hands, loss of gait... | Rott syndrome |
| Outcome for an X linked dominant inheritance if women has children with unaffected man? | 50% female affected/ 50% male affected |
| The person cannot process sugar galatose. | Galactosemia |
| This disorder is most common in the Caucasian population. | Cystic FIbrosis |
| There is no cure for this disorder and most children die at the age of 4-5 years old. | Tay-sachs |
| Food to a person with PKU | Green beans, oat meal, orange juice, and pasta |
| Highly penetrate gene? | A gene that will express regardless of the environmental effects |
| what is a highly penetrate gene? | A gene that |
| A person with this disorder is tall, thin with tapering fingers and have cardiac issues. | Marfan's syndrome |
| Group of two genetic disorders with skin hair and kidney problems | Ruberous sclerosis |
| This de-pigment or hypopigmental with lesion appears anywhere in the skin | Ash leaves |
| Appear lower back as raised patches of skin | Shargreen patches |