Term
| This is the normal male karyotype for the human male species |
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Definition
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Term
| True or false, from the karyogram you can determine the karyotype |
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Definition
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Term
| Most chromosomal problems or defects occur here during meiosis |
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Definition
| During gamete formation while crossing over is occuring in prophase 1 of meiosis |
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Term
| The DNA content of a genome is designated by what letter |
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Definition
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Term
| These chromosomes have there centromere between the middle and the telomere |
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Definition
| Submetacentric chromosomes |
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Term
| What is the term describing normal poidy in cells? |
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Definition
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Term
| The DNA content of normal haploid cells is what? |
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Definition
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Term
| A cell having a multiple of 23 chromosomes is said to be what? |
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Definition
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Term
| This refers to the tail of a chromosome |
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Definition
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Term
| These chromosomes have there centromere near a telomere |
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Definition
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Term
| This portion of the chromosome is termed the small arm (p)? |
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Definition
| The portion located above the centromere |
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Term
| Can polyploidy be found in isolated tumors? |
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Definition
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Term
| True or false, every chromosome has a banding pattern? |
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Definition
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Term
| The chromosome number of a genome is designated by what letter? |
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Definition
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Term
| True or false, most somatic cells are haploid (1C, 1n)? |
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Definition
| False, most somatic cells are diploid (2C, 2n), this is because they contain two copies of the human genome |
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Term
| Each chromosome is divided into regions labeled p1, p2, p3, etc. and q1, q2, q3, etc., and count outwards from this point (this point is also called the starting point) |
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Definition
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Term
| This is the site of attachment of the spindles during cell division |
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Definition
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Term
| The DNA content of normal diploid cells is what? |
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Definition
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Term
| This is an image showing the chromosomes of a cell sorted acording to size and arranged in pairs, with the sex chromosomes placed in the lower right portion |
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Definition
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Term
| These are all acrocentric chromosomes |
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Definition
| Chromosomes # 13, 14, 15, 21, 22 |
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Term
| True or false, gametes are haploid (1C, 1n)? |
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Definition
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Term
| These chromosomes have arms are of equal length |
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Definition
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Term
| This is the normal female karyotype for the human female species |
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Definition
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Term
| In what phase are the chromosomes arrested in order to study them in a karyogram? |
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Definition
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Term
| This is used to arrest the cells in metaphase by cutting the spindle fibers |
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Definition
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Term
| The location for this arm is called p for petit |
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Definition
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Term
| The location for this arm is called q for queue |
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Definition
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Term
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Definition
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Term
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Definition
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Term
| What are the two purposes of G-banding (Giemsa banding) |
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Definition
1. Identification of each individual chromosome
2. For the diagnosis of numerical and structural abnormalities |
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Term
| This portion of the chromosome is termed the long arm (q) |
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Definition
| The portion below the centromere |
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Term
| This is defined as the addition of a complete haploid set to the cells of an individual |
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Definition
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Term
| What are the two types of polyploidies? |
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Definition
1. Triploidy (3n)
2. Tetraploidy (4n) |
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Term
| Cells that contain 3 copies of each chromosome are said to be what (these cells have a total of 69 chromosomes)? |
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Definition
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Term
| How do cells usually become triploid? |
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Definition
| By fertilization of an ovum (haploid) by two sperm cells (both haploid) |
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Term
| True or false, triploidy is lethal |
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Definition
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Term
| This is the term to cells that contain 4 copies of each chromosome (they contain a total of 92 chromosomes) |
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Definition
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Term
| True or false, tetraploidy is not very lethal |
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Definition
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Term
| Which condition is rarer tetraploidy or triploidy? |
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Definition
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Term
| Having a third copy of one chromosome is called what? |
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Definition
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Term
| What are the three theories of how triploidy occurs? |
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Definition
1.) 1 haploid egg + 2 haploid sperm cells
2.) 1 diploid sperm + 1 haploid egg
3.) 1. diploid egg + 1 haploid sperm |
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Term
| This is a triploidy and occurs due to two haploid sperm cells fertilizing one normal haploid egg resulting in the egg developing with 69 chromosomes instead of the normal 46 |
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Definition
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Term
| This syndrome is characterized by severe mental retardation |
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Definition
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Term
| This is the summary of the chromosome constitution of a cell or person, such as 46, XY or 46, XX |
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Definition
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Term
| This is defined as having three copies of a specific chromosome instead of having the normal 2 copies of each |
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Definition
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Term
| Which abnormalities are more lethal, autosomal abnormalities or sex chromosome abnormalities? |
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Definition
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Term
| Which autosomies survive to term? |
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Definition
| Trisomy 13, 18, 21 (T13,T18,T21) |
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Term
| Does sex chromosomal abnormalities produce individuals who are structurally abnormal? |
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Definition
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Term
| Trisomy is more related to what? |
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Definition
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Term
| True or false, mosaic people can have a mutation in some of their cells while the rest of there cells are completely normal |
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Definition
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Term
| This is the single most common genetic cause of moderate mental retardation |
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Definition
| Trisomy 21 (Down Syndrome) |
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Term
| This is the loss or gain of specific chromosomes |
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Definition
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Term
| Most trisomies occur because of this in meiosis during gamete formation in the parents |
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Definition
| Non-disjunction of chromosomes |
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Term
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Definition
| Non-disjunction is where the chromosomes fail to seperate in meiosis 1 or meiosis 2 like they should |
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Term
| Which syndrome is characterized by trisomy 18? |
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Definition
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Term
| What determines if a mosaic person phenotypically expresses a mutation? |
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Definition
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Term
| This is the most common and best known of all the chromosomal disorders |
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Definition
| Down Syndrome (Trisomy 21) |
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Term
| These people have patches of tissue that differ genetically form the rest of their body due to a mutation or chromosomal anomaly that arose early in embryological development |
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Definition
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Term
| True or false, trisomies only arise from non-disjunction |
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Definition
| False, trisomies can also arise from translocations or mosaicisms |
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Term
| These are abnormalities involving the X and Y chromosome |
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Definition
| Sex chromosomal aneuploidies |
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Term
| Triploidy is more related to who? |
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Definition
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Term
| This is defined as having only one copy of a specific chromosome instead of having the normal 2 |
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Definition
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Term
| What are three potential medical complications in down sydnrome? |
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Definition
1. Leukemia
2. Alzheimer's
3. Heart Defects |
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Term
| True or false, sex chromosomal abnormalities tend not to abort |
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Definition
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Term
| Which syndrome is characterized by trisomy 13? |
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Definition
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Term
| What are the two types of aneuploidy that both occur during gamete formation |
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Definition
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Term
| Which syndrome is characterized by (45 X)? |
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Definition
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Term
| This syndrome is seen in males with an extra X chromosome |
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Definition
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Term
| Which results in more problems non-disjunction during meiosis 1 or non-disjunction during meiosis 2? |
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Definition
| Non-disjunction during meiosis 1 |
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Term
| Which syndrome is characterized by trisomy 21? |
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Definition
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Term
| What is the most likely explanation for the observation of dominant mutations in multiple children of unaffected parents? |
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Definition
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Term
| This can be due to a mosaicism (trisomy 21 in this situation) in the brain cells |
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Definition
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