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ASCP Molecular Biology Exam | Questions with Correct Verified Answers $12.79   Add to cart

Exam (elaborations)

ASCP Molecular Biology Exam | Questions with Correct Verified Answers

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ASCP Molecular Biology Exam | Questions with Correct Verified Answers Name the disorder: CGG Repeats approaching FMR1 - ANSWER Fragile X syndrome Name the disorder: HFE gene malfunction - ANSWER Hemochromatosis Name the disorder: CAG repeat expansion >37 - ANSWER Huntington Disease Name the...

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  • August 28, 2024
  • 12
  • 2024/2025
  • Exam (elaborations)
  • Questions & answers
  • ASCP
  • ASCP
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KenAli
ASCP Molecular Biology Exam |
Questions with Correct Verified Answers

Name the disorder: CGG Repeats approaching FMR1 - ANSWER Fragile X syndrome


Name the disorder: HFE gene malfunction - ANSWER Hemochromatosis


Name the disorder: CAG repeat expansion >37 - ANSWER Huntington Disease



Name the disorder: 1300+ mutations identified- most common is 3bp deletion in 508 of
protein. - ANSWER Cystic Fibrosis



Name the disorder: Mutations in ATM gene cause variations in phosphorylating other proteins
involved in DNA repair and @ G1-G2 checkpoint. - ANSWER Ataxia telangiesctasia


Down Syndrome Chromosome and notation - ANSWER 21 47,XY,+21


Edward Syndrome Chromosome and notation - ANSWER 18 47,XY,+18


Patua Syndrome Chromosome and notation - ANSWER 13 47,XY,+13


Klinefelter syndrome Chromosome and notation - ANSWER X 47,XXY


XYY syndrome Chromosome and notation - ANSWER Y 47,XYY


Turner Syndrome Chromosome and notation - ANSWER X or Y 45,X

, Multi X Females Chromosome and notation - ANSWER X 47,XXX


Digeorges Syndrome Chromosome and notation - ANSWER 22 Del(22q)


Contiguous Gene Syndrome Chromosome and notation - ANSWER 11 Del(11q)


Cri du chat Chromosome and notation - ANSWER 5 Del(5p)


Tay Sachs Disease Chromosome and notation - ANSWER 15 q23


Gaucher Disease Chromosome and notation - ANSWER 1 1q22



Name the disorder: Flat face,mental retardation,cardiac problems, risk of acute
luekemia. Abnormal immune syndrome. - ANSWER Down Syndrome


Name the disorder: severe clenched fist- survival under 1 year - ANSWER Edward Syndrome



Name the disorder: cleft palate-heart damage-mental retardation. Survival under 6mos -
ANSWER Patua Syndrome



Name the disorder: hypogonadism, long legs,gynecomastia,low testo levels -
ANSWER Klinefelter syndrome



Name the disorder: excessive height,acne, 1% to 2% behavioral problems - ANSWER XYY
syndrome



Name the disorder: kneck webbing-heart disease-no secondary sex statistics. Hypothryoidism -
ANSWER Turner Syndrome

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