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| chromatin begins to condense into elongated chromosomes |
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| based on homology, homologs pair side by side to form bivalents |
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| formation of synapses resulting in tetrad structures; crossing over begins to occur |
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| chiasmata evident between homologous chromatids |
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| terminalization occurs as the chiasmata move towards telomeres |
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| most common source for obtaining adult chromosomes |
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| used to determine mosaicism |
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| most common source for obtaining fetal chromosomes |
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| used to burst cells open on microscope slides |
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| most common method of staining karyotype |
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| abnormal chromosome number due to gain or loss of chromosomes |
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| can produce disomic or nullisomic gametes |
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Definition
| occurs in utero. results in some normal and some abnormal cells within the same invidivual (mosaicism) |
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| when a cell contains one or more extra sets of chromosomes |
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Definition
| transfer of genetic material from one chromosome to the end of another |
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| Robertsonian translocation |
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Definition
| when two acrocentric chromosomes lose their satellite DNS and fuse together |
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Definition
| when genetic material from one chromosome is placed internally within another chromosome |
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Definition
| a portion of a chromosome breaks and then flips before reattaching |
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Definition
| results in break at both telomeres, sticky ends join together; very unstable at mitosis |
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Definition
| results from the loss of one chromosomal arm and subsequent duplication of the remaining arm |
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| allow detection of microdeletions and microduplications |
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| allow detection of aneuploidy |
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| useful in diagnosis of unxeplained mental retardation |
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Term
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Definition
| when an individual has two chromosomally distinct cell populations that were derived from different zygotes |
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| when two zygotes fuse to form a single embryo; can result in a hermaphrodite |
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| exchange of cells between non-identical twins via the placenta |
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Definition
| when activty in heterozygote not enough to allow function |
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| when a disorder involves more than one organ system |
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| when the severity of a genetic disorder shows significant differences in different affected individuals |
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| when individuals with a genetic disorder fail to demonstrate clinical symptoms |
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Definition
| affected individual could be a mosaid or mutation could have occured in a parental germ line |
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| when two or more different genes can produce the same disorder |
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| results from mutations at more than one site within a gene |
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| disorder carrying X chromosome is the primary activated chromosome in tissue affected by disorder |
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Definition
| gene found in pseudoautosomal regions. appear to demonstrate X linnked in some families but autosomal in others |
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Definition
| when the effect of a mutation is dependent upon from which parent the trait was inherited |
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| mitochondrial inheritance |
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Definition
| maternallt inherited. most affects brain and muscle |
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Definition
| phenotype is dependent on additive effect of several genes and different loci |
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| when a genetic disease occurs at an earlier age or with increasing severity in successive generations |
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| only a certain portion of somatic cells affected; accounts for varying degrees of severity of certain disorders |
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| found to be the cause of autosomal dominant disorders among siblings even though both parents lack the disorder |
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| an individual has a set of homologes that were both derived from the same parent |
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| error in meiosis II resulting in two copies of the same homolog |
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| error in meiosis I resulting in both homologs from a single parent |
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| multifactorial inheritance |
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Definition
| the phenotype is determined by multiple genes and environmental factors |
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| the proportion of phenotypic variation attributable to genetic variance or the extent to which genetic individual differences contribute to individual phenotypic differences |
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| how you calculate heritability |
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Definition
| changes in gene expression that occur without changes in the DNA sequence |
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