Occurs when a chromosomal fragment is lost, resulting in chromosomes with missing genes
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Map unit
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Equal to a 1% recombination frequency. Map units are used to express relative distances along the chromosome
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Linkage map
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A genetic map that is based on the percentage of crossover events
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Polyploidy
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The condition of having more than two complete sets of chromosomes
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Recombinants
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A genetic cross that yields offspring with a different phenotype from either parent
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Inversion
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Occurs when a chromosomal fragment breaks off and reattaches to its original position backwards
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Duchenne muscular dystrophy
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Progressive weakening of muscles and loss of coordination
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Barr body
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The inactive X chromosome of the developing female condenses into this and lies along the inside of the nuclear envelope
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Genomic imprinting
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In mammals, the phenotypic effect of a gene may depend on which allele is inherited from each parent
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Linked genes
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Located on the same chromosome and therefore tend to be inherited together during cell division
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Translocation
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Occurs when the deleted chromosome fragment joins a nonhomologous chromosome
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X-inactivation
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During embryonic development of females, one of the X chromosomes (randomly chosen) is inactivated by methylation
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Monosomic
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Where the fertilized egg receives one copy of a chromosome
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Sex-linked gene
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A gene located on a sex chromosome; can be X-linked or Y-linked
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Trisomic
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Where the fertilized eggs receive three copies of the chromosome
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Turner syndrome
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A monosomic condition in which the female only has one X. Sterile as their reproductive organs don't mature. Only known viable monosmy in humans.
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Klinefelter syndrome
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An aneuploid condition in which a male possesses the sex chromosomes XXY (an extra X). Are sterile.
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Duplication
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Occurs when a chromosomal segment is repeated
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The chromosome theory of inheritance
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Genes have loci on chromosomes and chromosomes segregate and assort independently
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X-linked inheritence
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X-linked genes are passed to daughters by both mother and father as females are XX. For males, only the mother provides the X-linked gene and the father provides the Y-linked gene as the mother only has X-linked genes and the father can only give Y-linked genes if the result is male progeny
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Genetic recombination
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The production of offspring with a new combination of genes inherited from the parents
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Parental type
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A genetic cross that yields offspring with the same phenotype as one of the parents
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Nondisjunction
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Occurs when the members of a pair of homologous chromosomes do not separate properly during meiosis I resulting in one gamete receiving two copies of a chromosome, while the other gamete receiving none
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Aneuploidy
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Fertilization of two gametes where one has an incorrect chromosomal number as a result of nondisjunction
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X-linked disorder: Hemophilia
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Blood with an inability to clot normally
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Down syndrome
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An aneuploid condition that is the result of an extra chromosome 21 (trisomy 21). Down syndrome includes characteristic facial features, short stature, heart defects, and developmental delays