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| Net loss of material; 46 X,X, del(5) (q13qter) |
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| Break in two place, dna flips |
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| 3 copies of one chromosome; 47 XY, +21 |
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| 1 copy of any chromosome, ex; 45,X |
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| 3 copies of all chromosomes 69, XXX |
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| Change in the number of chromosomes |
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- 50% of spontaneous abortions due to chromosomal abnormalities
- 15% of recognized pregnancies end in miscarriage |
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| Ribosomal DNA on sattelite attached by stalk to centromere; redundant |
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- Suspected Abnormality
- Multiple congenital anomalies
- Sex differentiation disorder
- Undiagnosed developmental delay
- Hematologic malignancy
- Multiple (>3) miscarriages; stillbirth or early death
- Fertility problems; advanced age
- Family history |
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Definition
| G staining most common, stains AT regions using trypsin and Giemsa; Active areas are more open so are degraded by trypsin thus lighter |
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| Take mitotic cells, extract nucleus, swell in hypo soln, then drop on slide causing it to burst and freeing chromosomes. Line them up and analyze |
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| "One of each"; failure of disjunction in 1st meiosis resulting in a trisomic zygote that has both homologs of chromosomes from one parent and one homolog of another |
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| "2 of a set"; failure of disjunction in 2st meiosis resulting in a trisomic zygote that has 2 copies of the same chromosome from one parent and then one normal contribution from the other |
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- early in trisomic individual, one chromosome is kicked out randomly
- results in imprinting issue if the chromosomes retained are from the same parent |
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| Meiosis 1 error, have 2 copies of two different homologous chromosomes from the same parent |
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| "Iso!" Meiosis 2 error; have two copies of the same homolog from one parent, the other parents chromosome is kicked out |
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| Down's syndrome; 80% result from maternal meiosis 1 errors |
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| Spartan Helmet syndrome, deletion of p arm of chromosome 4 |
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Chromsosomal disorder where part of the q arm of chromosome 22 is deleted.
- Visualized using fish; Digeorge probe missing on marked chromosome (22) |
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Term
| Robertsonian Translocation |
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Definition
| p arms are lost because they are very small so translocation results in just 1 big combo chromosome. Think of two ice cream cones without the ice cream put mouth to mouth. Segregates in 3 differnet assorments of which 2 are unbalanced |
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Definition
| Different color dyes for different chromosomes |
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Term
| Comparative Genomic Hybridization |
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Definition
- Cut up patient DNA and Reference and label with dye. Hybridize to micro arraw and scan output. If = expression of that segment then color will be a balanced blend, if there is less patient it will have the reference color and vice versa.
- Eventually replace FISH and karyotyping
- Detect CNV and UPD and Microdel/Microdup |
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Definition
- When treated with low folate it would break x chromosome
- 5' UTR repeat of CGGCGGCGG; >200 rpts = full mutation |
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Grandfathers of fragile X kids have FXTAS which causes Tremor, PD, brain atrophy
- Produce excess mRNA
- Occurs in 20-30% of NTMs |
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| - Only maternal copy of region 15 so it can be a deletion or UPD |
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| -Only have paternal copy chromosome 15 |
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-XXY
- Also can have RETTS because of XX
- Don't mature |
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- XYY
- Antisocial and explosive behaviour |
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