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| p arm is shorter than q arm |
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| p arm consists of satellite DNA (rDNA + telomere) |
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| p arm lacking (not in humans) |
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| by size and shape of chromosomes determines groups A-G |
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| mitotic spindle, nucleoli and nuc membrane disappear, beginning of chromosome condensation |
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| spindles move chromosomes to equator |
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| sistir chromatids separate at centromere into identical chromosomes and migration begins |
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| nuclear membrane formation, chromosomes disperse into chromatin, spindle apparatus disassembled, cytokinesis (two cells form) |
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| producing haploid gamestes (n=23) |
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| produces haploid cells but cells consist of 2 chromatids; helps shuffle genetic information; plus cross-over |
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| leptoteme, zygoteme, pachyteme, diploteme, diakinesis; lining up cross-over and termination of cross-over |
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| chromatin begin to condense into elongated chromasomes |
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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 (cross over begins to occur) |
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| chiasmata (cross-over) evident between homologous chromatids |
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| terminalization occurs as chiasmata approches the telomeres |
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| homologs begin migration to opposite poles (law of independent assortment) |
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| four haploid cells with chromosomes consisting of one chromatid; same phases and resembles mitosis |
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| arrests mitosis in prophase |
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| most common method of chromosome staining |
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| opposite light/dark pattern of G staining |
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| centromere heterochromatin staining |
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| non-coding DNA - determine where it is located (misplaced?) |
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| early prophase chromosomes - single G band subdivided into 5-15 sub-bands |
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| photomicrograph of an individual's chromosomes with paired homologs in order (allows numeric and structural analysis) |
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| abnormal chromosome number due to gain or loss (trisomy, monosomy) most die in utero, sex trisomies are more tolerated, monosomy X does not survive well |
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| meiosis I or II does not separate the chromosomes properly (occurs in anaphase when the homologues do not go to opposite cells) - make disomic and nulisomic gametes |
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| one or more extra sets of chromosomes; results in spontanous miscarriages; caused by multispermy or failure in meiotic division in sperm/egg |
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| can develop in somatic division; different cell types making up an individual - mosaic of different types in body |
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| net loss or gain of genetic material; serious clinical effects |
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| no net gain or loss of genetic material; loss of gene could be clinical; greater chance of having children with unblanaced gene - and death in utero (come to doc for this reason) - 2/3 of pregnancies are misscarried; |
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| exchange between two chromosomes; terminal pieces; in meiosis they form quadrivalent pachytene in meiosis |
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| robertsonian translocation (centric fusion) |
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| acrocentric chromosomes - loose satellite DNA and their centromeres fuse together (centric fusion); would have one less chromosome |
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| material placed internally that does not belong there; reduced fertility (less common than translocation) |
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| inversion of genetic material to flip around region - pericentric inversion - larger the region the less likely a non-viable cross-over if there is a smaller inversion section |
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| involvement of the centromere - (around centromere); with inversions the cross-over in prophase I will not function appropriately - forms an inversion loop - allows partial deletions = non-viable offspring with one-half of gametes - 2 viable/ 2 non-viable |
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| centromere not involved - will end up with one w/o centromere and one with two centromeres; can be left in the cytoplasm - may be torn and become an anaphase lag - no movement to the poles; 2 viable gametes and two non viable |
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| in series duplication next to original sequence |
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| due to breaks in both telomeres - sticky ends = two rings cross-over dna and become interlocking - these will break upon mitosis anaphase; genes expressed just fine; causes mental retardation |
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| loss of one arm and duplication of the other in tandem; common in x chromosome; monosomy for one arm and trisomy for other arm |
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| gene specific fluorescent probe - in situ metaphase; use hybridization |
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| marker for gene microdeletion/microduplication; must know the exact sequence to look for - used for confirmation; second sequence used for unaffected region to confirm chromosome |
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| mutation in a cell after the formation of a zygote - results in differential genotypes troughout the body |
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| two or more cell lines developed by more than one zygote, in one organism |
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| two sperm, two ova = one offspring; can cause true hermaphroditism |
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| exchange of cells via the placenta between non-identical twins in utero |
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| a disorder involves more than one organ system |
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| when the severity of the genetic disease depends on the affected individual (all types of inherited traits) |
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| when individuals with a genetic disorder fail to demonstrate clinical symptoms >> probably due to interactions with other genes |
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| could be genuinely de novo, may be non-penetrance of parent, may be non-paternity or non-maternity, mosaic or germ-line |
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| both traits are expressed |
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| rare, usualy more severe for dominant traits |
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| relationships between two people in the same family (same blood) resulting in occurance of rare autosomal recessive disorders |
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| homozygous for an autosomal recessive disorder mates with heterozygous equalling 50% chance of disease |
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| a disorder inherited in the same manner can be due to mutations in more than one gene |
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| when recessive traits are caused by mutations at more than one site in a gene |
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| x is non-randomly inactivated in a tissue resulting in disease |
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