AMNIOCENTESIS

Detecting Genetic disorders Amniocentesis- procedure done to pregnant woman to look at the chromosomes of her unborn child 14-20 Chorionic villus sampling (CVS) done earlier Can detect some genetic disorders It cant cure them it can only detect them Usually done on a woman with a history of genetic disorders Or a woman at high risk (over 35) Do a ultrasound first to detect where the baby is ( fetal cells floating around) Make a Karyotype from the baby’s cells Karyotye- picture of the chromosomes of a cell, grouped into pairs (Microscope) Look for an abnormal number of chromosomes- should have 46 ( stained)

KARYOTYPE

23

Nondisjunction- is the failure of chromosome pairs to separate properly during meiosis

Abnormal Chromosomes Number Monosomy- only one chromosomes of a usual pair is present ( Mono means one) Trisomy- 3 copies of a chromosome instead of the usual pair (2) ( tri means 3) The most common abnormalities detected are    Down syndrome (trisomy 21),  Edwards syndrome (trisomy 18), Turner syndrome (monosomy X). 

Down Syndrome

Trisomy 18 , Edwards Syndrome

Kleinfelter, XXY XXY Kleinfelters -  human males have an extra X chromosome, infertile, increased breast tissue,

Turners Syndrome, X0 YO Lethal- die ( Monosomy Y) XO Tuners Syndrome- ( monosomy X) physical abnormalities, such as short stature, sterile, webbed neck YO Lethal- die ( Monosomy Y)

Prader- Willie Syndrome

Patau, Trisomy 13

Superfemale, XXX XXX Superfemale - Thus, Triple X syndrome most often causes no unusual physical features or medical problems