a deficiency in a chromosome resulting from the loss of a fragment through breakage; a mutational loss of one or more nucleotide pairs from a gene
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map units
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a unit of measurement of the distance between genes. one map unit is equivalent to a 1% recombination frequency
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duchenne muscular dystrophy
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a human genetic disease caused by a sex-linked recessive allele; characterized by progressive weakening and a loss of muscle tissue
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nondisjunction
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an error in meiosis or mitosis in which members of a pair of homologous chromosomes or a pair of sister chromatids fail to separate properly from each other
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cytogenic maps
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a chart of a chromosome that locates genes with respect to chromosomal features distinguishable in a microscope
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genetic recombination
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general term for the production of offspring with combinations of traits that differ from those found in either parent
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trisomic
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referring to a diploid cell that has three copies of a particular chromosome instead of the normal two
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klinefelter syndrome
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XXY, people with this disorder have male sex organs, but the testes are abnormally small and the man is sterile
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linked genes
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genes located close enough together on a chromosome that they tend to be inherited together
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monosomic
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referring to a cell that has only one copy of a particular chromosome instead of the normal two
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genetic map
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an ordered list of genetic loci (genes or other genetic markers) along a chromosome
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recombinant type (recombinant)
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an offspring whose phenotype differs from that of the parents; also refers to the phenotype itself
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sex-linked gene
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a gene located on a sex chromosome (usually the X chromosome), resulting in a distinctive pattern of inheritance
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chromosome theory of inheritance
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a basic principle in biology stating that genes are located on chromosomes and that the behavior of chromosomes during meiosis accounts for inheritance patterns
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hemophila
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a human genetic disease caused by a sex-linked recessive allele resulting in the absence of one or more blood-clotting proteins; characterized by excessive bleeding following injury
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duplication
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an aberration in chromosome structure due to fusion with a fragment from a homologous chromosome, such that a portion of a chromosome is duplicated
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crossing over
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the reciprocal exchange of genetic material between nonsister chromatids during prophase I of meiosis
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linkage map
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a genetic map based on the frequencies of recombination between markers during crossing over of homologous chromosomes
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parental type
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an offspring with a phenotype that matches one of the parental phenotypes; also refers to the phenotype itself
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translocation
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an aberration in chromosome structure resulting from attachment of a chromosomal fragment to a nonhomologous chromosome
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down syndrome
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a human genetic disease caused by the presence of an extra chromosome 21; characterized by mental retardation and heart and respiratory defects
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polyploidy
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a chromosomal alteration in which the organism possesses more than two complete chromosome sets. it is the result of an accident of cell division
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inversion
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an aberration in chromosome structure resulting from reattachment of a chromosomal fragment in a reverse orientation to the chromosome from which it originated
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turner syndrome
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XO, people with this disorder are phenotypically female, they are sterile because their sex organs do not mature
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aneuploidy
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a chromosomal aberration in which one or more chromosomes are present in extra copies or deficient in number
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wild type
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an individual with the phenotype most commonly observed in natural populations; also refers to the phenotype itself