Allerations in Chromosones structure and Number (non disjunction disorders)

hasanahatesscience's version from 2017-02-23 02:27

Alterations in chromosones structure and number

Question Answer
trisomy 21 or downs syndrome3 chromosones have 21 pairs. each cell contains 47 chromosones. intellectual delays and health problems (impaired immune function) generally a normal life span (middle age) 1 out of 800 births. spindle gest old when woman age (35+)
trisomy 13 or patauls syndromebabies have severe mental and health problems. lifespan is usually under a year. 1 out of 16000 births
trisomy 18 or edwards syndromebabies have severe mental and physical disabilities. lifespan may exceed 1 year. 1 out of 50000 births
XXY or Klinefetters Syndromefeminized sterile ( no babies can be produced) 1/500 to 1/1000 births
XYY = Super Maleno mental or physical defects, just very tall
XXYYthese men have many physical and mental issues (48 chromosones) feminized and sterile ( can't have babies)
XO or Turners Syndrome45 chromosones instead of 46. short and wide females with many health problems. sterile

Chromosonal Damage

Question Answer
Chromosonal Damageinformation that is carried on. DNA can't be located. this can happen from X ray damage or nuclear exposure
Translocationlocates to a dif spot (wrong chromosone)
Deletionpiece of Dna is lost
Duplicationpiece of Dna is doubled
Inversionpiece of Dna is flipped

Ways to test Genetic Abnormalities

Question Answer
Karotype Analysiscells in prometaphase are photographed and chromosones line up. LOOKS FOR ABNORMALITIEs IN PLOIDY
Carrier Testingdetermining if somone has a mutation that children may inherit. done b4 having kids (muscular dystrophy, haemophila, sickle cell disease)
Presymptomatic testingpredicts chance of developing disorder before having symptoms, if there is family history or disease. ex :Angelina Jolie cutting her boobs off because breast cancer
Diagnostic Genetic Testingidentify or rule out specific genetic or chromosonal condition. done after symptons appear
Prenatal Genetic Testinglooks for chromosomal or genetic mutations in fetus.
Chorionic Villi Samplingsuction tube is inserted into vagina thru cervix and tissue surronding the fetus (chorion). abnormalities detected through karyotype of cultured cells and biochemical tests. at
Amniocentesisneedle is inserted into the womb and amniotic fluid is extracted. abnormalities detected through karotype and cultured cells and biochemical tests. 14 to 16 weeks pregnant + 2 weeks for cell culture

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