Term
| What is the term meaning a slightly different form of the same gene at a locus? |
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Definition
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Term
| Term for members of a pair of chromosomes? |
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Definition
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Term
| What are the components of DNA? |
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Definition
| deoxyribose (sugar), a nitrogen base and a phosphate group |
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Term
| What are the four bases of DNA? |
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Definition
adenine (A)
guanine (G)
thymine (T)
cytosine (C) |
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Term
| During what stage(s) of mitosis are chromosomes visible? |
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Definition
| metaphase or prometaphase |
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Term
| How are the DNA in each chromosome packaged? |
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Definition
| packaged as chromatin within the cell nucleus |
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Term
| What are the two types of cell division? |
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Definition
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Term
| Which type of cell division results in 2 daughter cells (diploids) with identical chromosomes and genes to the parent cell? |
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Definition
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Term
| Which type of cell division is described as producing gametes (haploid) that only have 23 chromosomes? |
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Definition
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Term
| Term meaning complete picture of the chromosomes? |
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Definition
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Term
| Term meaning the obligation of those who obtain information about individuals, either legitimately or illegitimately, to protect the privacy of that information? |
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Definition
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Term
| Term meaning making choices on the basis of ethically relevant or irrelevant differences between things, events, or agents? |
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Definition
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Term
| Term meaning the moral obligation to attempt to find/follow-up with a patient or family who was seen previously, if medically appropriate and desired? |
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Definition
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Term
| Term meaning the moral obligation, usually under exceptional circumstances, to disclose information to at-risk relatives; this duty may require a health care professional to breach patient confidentiality if a person, other than the patient, is in clear and imminent danger? |
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Definition
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Term
| What is a process in which the release or divulgence of information by an entity is to persons or organizations outside of that entity or to another person? |
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Definition
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Term
| What is a process called in which an individual or family makes a decision based on relevant information? |
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Definition
| Informed consent/assent/refusal |
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Term
| What is the term describing the obligation to respect the decision-making capacities of autonomous persons who have been fully informed with accurate and unbiased information? |
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Definition
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Term
| What term means formed by DNA wrapped around histones (small positively charged proteins)? |
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Definition
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Term
| Which base pairs bind together? |
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Definition
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Term
| What term means sequence of DNA in the genome that is required for production of a functional product? |
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Definition
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Term
| What term is described as molecules involved in regulating gene expression that are usually proteins? |
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Definition
| Transcription Factors TFs |
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Term
| What are transcription factors stimulated by? |
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Definition
| stimulated by environmental or corporeal changes, or other TFs (cascade effects) |
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Term
| What is the enzyme that synthesizes the new DNA by adding nucleotides? |
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Definition
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Term
| What stage of DNA replication is described as messenger RNA (mRNA) is synthesized from the DNA template? |
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Definition
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Term
| Where does translation occur? |
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Definition
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Term
| What provides a link between the mRNA and the amino acid that correlates to the genetic code? |
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Definition
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Term
| What is most common method for visualizing chromosomes? |
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Definition
| G-banding with Giemsa stain |
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Term
| What term means the study of chromosomes including their structure and inheritance as applied to the practice of medicine? |
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Definition
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Term
| How are chromosomes classified? |
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Definition
| by the position of the centromere |
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Term
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Definition
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Term
| off center with arms of different lengths = ? |
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Definition
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Term
| centromere is near one end = ? |
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Definition
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Term
| What are the two arms of the chromosome? Which is the long arm, which is the short arm? |
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Definition
p – short arm
q – long arm |
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Term
| What type of chromosomal abnormality is described as abnormal number of chromosomes due to an extra or missing chromosome? |
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Definition
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Term
| What is the MC type of chromosomal abnormality? |
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Definition
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Term
| What is Aneuploidy always associated with? |
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Definition
| physical or mental maldevelopment or both |
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Term
| What chromosomal abnormality is described as only one of a particular chromosome? |
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Definition
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Term
| What are the effects of monosomy usually? |
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Definition
| Generally lethal except for monosomy X |
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Term
| What type of chromosomal abnormality is described as three of a particular chromosome? |
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Definition
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Term
| What are the only viable trisomies? |
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Definition
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Term
| What is trisomy 13 called? |
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Definition
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Term
| What is trisomy 18 called? |
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Definition
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Term
| What is trisomy 21 called? |
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Definition
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Term
| What condition is caused by an X monosomy? |
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Definition
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Term
| Which chromosomal abnormality is described as one arm is missing and the other arm is a mirror image? |
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Definition
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Term
| Which chromosomal abnormality is described as two chromosome segments fuse end to end with loss of their acentric fragments? |
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Definition
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Term
| Which type of balanced rearrangement is described as two breaks and reconstituted with the segment inverted? |
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Definition
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Term
| Which type of balanced rearrangement is described as exchange of segments between 2 nonhomologous chromosomes? |
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Definition
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Term
| Which type of translocation is described as total number of chromosomes is unchanged? |
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Definition
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Term
| Which type of translocation is described as Two acrocentric chromosomes fuse near the centromere with the loss of the short arms? |
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Definition
| Robertsonian translocations |
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Term
| Which type of balanced rearrangement is described as segment removed from one chromosome and inserted into a different chromosome? |
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Definition
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Term
| What chromosomal abnormality is described as individual has two or more cell populations with a different chromosomal makeup? |
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Definition
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Term
| What chromosomal abnormality is the MC to survive to term? |
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Definition
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Term
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Definition
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Term
| What condition is the deletion of the tip of 4p? |
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Definition
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Term
| What condition is the deletion of the tip of 5p? |
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Definition
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Term
| What condition is the microdeletion of the tip of 11p? |
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Definition
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Term
| What condition is the microdeletion of the tip of 15p? |
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Definition
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Term
| What condition is the microdeletion of the tip of 22q? |
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Definition
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Term
| Which are most evident, balanced or unbalanced chromosomal abnormalities? |
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Definition
| Unbalanced, balanced are usually not apparent phenotypically |
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Term
| Does Prader-Willi syndrome come from the mother or the father? |
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Definition
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Term
| Does Angelman syndrome come from the mother or the father? |
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Definition
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Term
| Does Beckwith-Wiedemann syndrome come from the mother or the father? |
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Definition
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Term
| What term means diagram of family genetic relationships? |
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Definition
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Term
| What type of inheritance causes the MC genetic diseases seen in primary care? |
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Definition
| Multifactorial (polygenic) |
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