Cytogenetics Part 2 .pdf

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Department
Molecular Biology and Genetics
Course
MBG 1000
Professor
Professor
Semester
Winter

Description
MBG*1000*0101 03.19.14 CYTOGENETICS  PART  2 ANEUPLOIDY • Diploid  genome  which  lacks  a  chromosome,  or  has  an  extra   chromosome o Extra  chromosome  à  2N  +  1  “trisomies” o Missing  chromosome  à  2N  –  1  “monosomies”   • Can  be  caused  by  meiotic  nondisjunction  à  division  of  one  cell  into  two,   where  one  of  the  new  cells  gets  both  copies  of  a  particular  chromosome o Assume  all  other  chromosomes  are  behaving  normally o Increase  in  age  of  mother  is  related  to  higher  frequency  of   nondisjunction  events • Viable  Aneuploidy  conditions: o Trisomy  21  Down  Syndrome o Trisomy  13  Patau  Syndrome o Trisomy  18  Edward  Syndrome   • Monosomies  involving  autosomes  are  not  viable • Aneuploid  Conditions  involving  sec  chromosomes   o XO  Turner  Syndrome o XXY  Klinefelter  Syndrome o XXX  Triple  X  Syndrome o XYY  Double  Y  Males   Autosomal  Trisomies   • Down  Syndrome   o 96%  due  to  meiotic  disjunction   § 80%  of  these  occur  in  oogenesis  of  mother § 20%  occur  in  spermatogenesis  of  father o 4%  due  to  translocations  in  one  of  parents   o Down  Syndrome  Trisomy  21 § Developmentally  delayed § 50%  à  heart  defect
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