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ChromosomeMutations
Fundamental GeneticsLecture 7
John Donnie A. Ramos, Ph.D.
Dept. of Biological SciencesCollege of ScienceUniversity of Santo Tomas
Chromosome Mutations
 Also called chromosome aberrations
Change in number of chromosomes, deletionor duplication of genes or segments of chromosome, or rearrangement of geneticmaterial
Inherited (can be passed from one generationto another)
Results to new phenotypic variation or maybelethal
 
 Variation in Chromosome Number
Nondisjunction
Failure of homologous chromosomes to segregate during anaphase of meiosis
Primary nondisjunction
 –failure of a homolog to segregation duringanaphase I
Secondary nondisjunction
 –failure of a homolog to segregate duringanaphase II
Results to aneuploidy
 
Monosomy
Loss of one chromosome (2n-1)
Caused by either primary or secondarynondisjunction
Human Example: Turner syndrome (2n=45, 44+X)
Monosomyinvolving autosomesin humans is lethal
Drosophila Example: HaploIV (monosomicatchromosome no. 4)
Slow development, reduced body size, impairedviability
Common in plants (maize, tobacco, primrose) –lessviable compare normal plants
Cri-du-ChatSyndrome
Cri-du-Chatsyndrome (cry of cat)
Deletion in part of chromosome 5 (46, 5p_)
Gastrointestinal and cardiac complications
Mentally retarded
 Abnormal development of glottis and larynx (cry like a cat)
Incidence: 1 in 50,000 births
Different cases have different degrees of truncations
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