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Genetic Disorders Review. What is the disorder?. Chromosome 11 Inability to manufacture melanin Often shifting back and forth of eyes ANSWER: ALBINISM. What is the disorder?. Polygenic More common among Asians Opening in lip and roof of mouth ANSWER: cleft lip/cleft palate.
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What is the disorder? • Chromosome 11 • Inability to manufacture melanin • Often shifting back and forth of eyes • ANSWER: ALBINISM
What is the disorder? • Polygenic • More common among Asians • Opening in lip and roof of mouth • ANSWER: cleft lip/cleft palate
What is the disorder? • Sex-linked trait • Lack AHF factor • “bleeder’s disease: • ANSWER: hemophilia
What is the disorder? • Chromosome #4 • Too many copies of CAG – causes atrophy of the brain • Does not manifest itself until 20’s-30’s • ANSWER: Huntington’s
What is the disorder? • On X-chromosome • Weakening of muscles • Calf muscles enlarge first, usually in young boys • ANSWER: Duchenne Muscular Dystrophy
What is the disorder? • Chromosome #15 • Accumulation of fat on the brain leads to degeneration of the nervous system • Highest in Eastern European Jews • ANSWER: Tay Sachs
What is the disorder? • Nondisjunction • XXY • Sterile, small testes, breast enlargement in males • ANSWER: Klinefelters
What is the disorder? • Nondisjunction • Trisomy 21 • Mental retardation, round face, extra fold on eyes, sluggish muscles • ANSWER: Down Syndrome
What is the disorder? • Chromosome #12 • Breakdown of products of phenylalanine • Mental retardation if diet does not omit phenylalanine • ANSWER: PKU
What is the disorder? • Red blood cells collapse • Carriers are somewhat resistant to malaria • Found mostly in African-Americans and people of Mediterranean • ANSWER: sickle-cell anemia
What is the disorder? • Nondisjunction • Female XO, sterile • Web between neck and shoulders • ANSWER: Turner Syndrome
What is the disorder? • Sex-linked trait • XcY would be affected male • Inability to detect certain colors • ANSWER: color blindness
What is the disorder? • Dominant chromosome #4 • Short stature, trident hand, prominent forehead • Dwarfism Aa • ANSWER: Achrondroplasia
What is the disorder? • Dementia • Memory loss, confused • Plaque on the brain • ANSWER: Alzheimers
What is the disorder? • Long limbs, enlarged aorta • Spidery fingers • Abe Lincoln had it • ANSWER: Marfans
What is the disorder? • Polygenic trait • Shunt in brain to drain off fluid • Opening of the vertebral column • ANSWER: Spina bifida
What is the disorder? • Chromosome #7-salty skin in symptom • Lack enzyme to break down mucous in respiratory and digestive tract • Treatment with pounding chest • ANSWER: Cystic Fibrosis
What is this diagram called? • Pedigree • Punnett square • C.Kayrotype
What is this diagram called? • Punnett square • Pedigree • C.Kayrotype • ANSWER: C
What is this diagram called? • Punnett square • B. Pedigree • C. Karyotype
What is this diagram called? • Punnett square • B. Pedigree • C. Karyotype • ANSWER: B
What disorder is this? • TURNERS • KLINEFELTERS • DOWNS • METAFEMALE
What disorder is this? • TURNERS • KLINEFELTERS • DOWNS • METAFEMALE • ANSWER: XXY • Klinefelters
What disorder is this? A. TURNERS B. KLINEFELTERS C. METAFEMALE D. DOWNS
What disorder is this? A. TURNERS B. KLINEFELTERS C. METAFEMALE D. DOWNS ANSWER: D
What are the chances of… • two Achrondroplasia parents having a normal sized child? • HINT: AA = dead • Aa = achondroplasia • aa = normal • ANSWER: 25%
What are the chances… • Of a father with hemophilia and a wife of no hemophilia gene having a child with hemophilia? Could any children be carriers? • ANSWER: 0% children; girls are carriers
What disorder is this? A. TURNERS B. KLINEFELTERS C. METAFEMALE D. DOWNS ANSWER: A
Klinefelters Turners Cystic Fibrosis Trisomy 21 Hemophilia ANSWERS: Cystic Fibrosis Hemophilia Which disorders ARE NOT caused by nondisjunction?
What is the genotypic ratio of the offspring of parents AO and BO? A O B O
What is the genotypic ratio of the offspring of parents AO and BO? A O B O What is the phenotypic ratio?
What is the genotypic ratio of the offspring of parents AO and BO? A O B O What is the phenotypic ratio? 25% each blood types A, B, AB, O
A+ O+ O- AB+ B- O+, A+ Only O+ Only O- All + O-, B- What type of blood can each of these blood types RECEIVE?
In which phase of mitosis • Are the chromosomes stopped to make a karyotype? • A. prophase • B. telophase • C. metaphase • D. anaphase • ANSWER: METAPHASE
How are the chromosomes arranged • In a karyotype? • A. smallest to largest • B. largest to smallest • C. by color • D. by shape • ANSWER: B
If red hair is recessive and is shaded in, how many boys and how many girls have red hair?
If red hair is recessive and is shaded in, how many boys and how many girls have red hair? • 2 boys + 2 girls
Is this person male or female? • MALE • Normal Or what Disorder?
Is this person male or female? • MALE • Klinefelters
Is this a male or female? • Female- Normal or a disorder?
Is this a male or female? • Female- TURNERS SYNDROME
This is a sex-linked trait. Why is there no trait (shaded) in Generation II, but can be in III?