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Chromosomal Disorder
| Question | Answer |
|---|---|
| Chromosomal errors are caused by a problem in ________? | Mitosis or meiosis |
| What is a karyotype? | An organized way to view a person's chromosomes |
| Why do we use karyotypes? | to diagnose chromosomal disorders |
| How do we use karyotypes? | match the homologous chromosomes and put them into the correct order (match the g-banding patterns on each chromosome) |
| What is used to make a karyotype? | Chromosome type, size, and shape |
| What are the 2 different chromosome types? Explain both. | sex (XX or XY) or autosomal (do not determine sex- humans have 22 pairs) |
| How are chromosomes arranged? In what order size wise? | largest to smallest in size |
| What do they mean by "chromosomal shape"? | placement of the centromere |
| Which cells typically make a karyotype? | placement cells (in fetus) and white blood cells (in adults) |
| phase cell is in to do a karyotype is __________ | metaphase |
| What is a spectral karyotype? | a new method to make a karyotype |
| What do they do in a spectral karyotype? What is the process? | florescent dye is added to the chromosomes to make the indentifictation of homologous chromosomes easier. |
| What do spectral karyotypes allow scientists to do? | identify aberrations and cross-over-errors on individual chromosomes |
| What are the 3 types of chromosomal errors? | trisomy, deletion, monosomy |
| What is trisomy? (name 3 things) | 3 of one chromosome, cells have 47 chromosomes, occurs in chromosome # 13, 18,21, x and y |
| What are the causes of trisomy? | non-disjunction and translocation |
| what is non-disjunction? Name 2. | failure of a chromosome to separate properly. Spindle fibers break during mitosis/meiosis. |
| What is translocation? Name 3. | when a chromosome or piece of a chromosome becomes attached to another. most common in chromosome with high centromere. common translocations are 14/21, 15/21, 21/21 |
| What are trisomy mosaics? | when some cells have a full set of chromosomes while others have too many or few |
| What are trisomy mosaics caused by? | non-disjunction during mitosis |
| How often does non-disjunction during mitosis occur? Out of that, how many die? | 1 in every 2 million divisions. 99% die and the other 1% will have a destroyed immune system |
| What happens if the cell escapes in trisomy mosaic? | becomes a tumor |
| what is deletion? | when a piece of the chromosome is damaged or missing |
| What is monosomy? | missing a chromosome |
| What is the ONLY viable monosomy? | turner's syndrome (all others are fatal) |
| How do you test for chromosomal errors? name 2 | amniocentesis and chronic villus sampling |
| How is amniocentesis done? | 1) withdraw fluid with special needle 2) separate fluid from cells 3) grow of test cells |
| How is chronic villus sampling done? | part of the placenta is removed to test |