Lecture 15 Flashcards
What is aneuploidy
an abnormal number of a particular chromosome
e.g down syndrome- trisomy 21
What is Non-disjunction
failure of chromosomes to separate properly during mitosis
What is polyploidy
possession of multiple sets of chromosomes
What are the 4 chromosomal aberrations
Deletion- removes a chromosomal segment
Duplication - repeats a segment
inversion - reverses a segment within a chromosome
Translocation - moves a segment from one chromosome to a non-homologous chromosome
What is Lejeune syndrome
deletion of the tip of the short arm of chromosome
What is Philadelphia translocation
translocation of 9:22
95% of patients with chronic myeloid leukemia
What is TK overexpression
treatable with Gleevec in 90% clases
What is familial down syndrome
translocation of 14:21
centric fusion = robertsonian translocation
