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Chromosomal Disorder

QuestionAnswer
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
Created by: taylorajohn
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