Chapter 15: Chromosomal Inheritance Flashcards
Chromosomal Theory of Inheritance
states that chromosomes are carriers of genetic information
Karyotype
Shows all chromosomes in an organism, organized by size
Disorders that are recessive are…
masked in females by the other X chromosome
Human Sex Linked Disorders
Colorblindness, Muscular Dystrophy, Hemophilia, Fragile X Syndrome
Muscular Dystrophy
Wasting away of muscles, life expectancy is 20 years, females can carry this disease (pass it to sons)
Hemophilia
“bleeders disease”, blood doesn’t clot properly, disease was present in the royal family (queen Victoria)
Fragile X Syndrome
Caused by triplet repeats (duplication mutation) in a gene on the X chromosome, causes mental retardation, tip of the X chromosome seemed to be attached only by a small thread
Non-Disjunction
Changes the chromosome #
Down Syndrome
extra chromosome in #21
Trisomy-18 (Edwards syndrome)
Extra copy of chromosome #18, Failure to grow/gain weight, developmental delays and intellectual disability, physical appearance (malformed ears, small jaw, narrow eyes)
Trisomy-13 (Patau Syndrome)
An extra copy of chromosome #13, 50% of babies die in the first month
Chromosome Mutations
Deletion, Duplication, Inversion, Translocation
Cri Du Chat
Deletion of gene on chromosome #5