1. DIAGNOSIS DOWNS SYNDROME: (autosomes; trisomy 21)
Extra copy of chromo. #21 or #21 attaches to other chromo.
1:800 babies affected, range from mild to severe retardation
Prenatal diagnosis
Amniocentesis-Remove a small amt. Of fluid from embryonic sac, cells are grown, no cell division allowed, karyotype is done
Chorionic villus biopsy- embryonic cells removed directly from the membrane surrounding the embryo; quicker but dangerous
Cystic fibrosis (CF)
Tay-Sachs disease (TD)
ETHICAL CONSIDERATIONS:
Who lives and dies??????

2. DIAGNOSIS