40 Questions
Which disease is associated with chromosome 7?
Cystic Fibrosis
Which disease often leads to enlarged kidneys in infants?
Polycystic Kidney disease
Which condition is characterized by excessive bleeding and usually affects males?
Hemophilia
Which disease is fatal and results in muscle weakness in males?
Duchenne Muscular Dystrophy
Which condition is associated with severe anemia and a high mortality rate shortly after birth?
Alpha Thalassemia
Which disease is characterized by deformed red blood cells that can clog blood vessels?
Sickle cell Anemia
Which disease leads to overproduction of mucus that collects in the lungs and digestive tract?
Cystic Fibrosis
Which condition results in severe fatigue, weakness, and frequent illness?
Beta Thalassemia
Which disease is caused by a deficiency in an enzyme and can lead to cirrhosis of the liver?
Alpha, Antitrypsin deficiency
Which disorder is characterized by absence of brain tissues, resulting in stillbirths?
Anencephaly
Which disease results in the overproduction of mucus, primarily affecting the lungs and digestive tract?
Cystic Fibrosis
Which of the following diseases results in incompletely closed spinal canal?
Spina Bifida
Which disease involves a deficiency in Alpha, Antitrypsin enzyme?
Alpha, Antitrypsin deficiency
Which chromosomal abnormality often results in mental retardation due to a metabolic disorder?
Phenylketonuria (PKU)
Which disease is characterized by kidney issues in both infantile and adult forms?
Polycystic Kidney disease
Which disease is marked by severe anemia resulting in weakness, fatigue, and frequent illness, often becoming fatal in young adulthood?
Beta Thalassemia
Which disease can often result in crippling arthritis in adulthood?
Hemophilia
Which disease has symptoms that include developmental delays and death before age 5?
Tay-Sachs Disease
Which disease is characterized by deformed, fragile red blood cells that can clog blood vessels?
Sickle cell Anemia
Match the chromosomal abnormalities with the descriptions:
Cri du chat syndrome = Deletion in the short arm of chromosome 5. Down syndrome = Trisomy of chromosome 21. Turner syndrome = Monosomy of the X chromosome. Klinefelter syndrome = Trisomy of the X chromosome.
Match each chromosomal abnormality to its corresponding description:
Cri du chat syndrome = Deletion in the short arm of chromosome 5. DiGeorge syndrome = Deletion in the long arm of chromosome 22. Philadelphia chromosome = Translocation between chromosomes 9 and 22. Inv dup(16) = Inversion of a segment of chromosome 16.
Match the chromosomal conditions with their genetic characteristics:
Turner syndrome = Monosomy of the X chromosome. Down syndrome = Trisomy of chromosome 21. Prader-Willi syndrome = Deletion in the long arm of chromosome 15. Angelman syndrome = Deletion in the short arm of chromosome 15.
Match each syndrome to the chromosomal alteration described:
Trisomy of chromosome 21. = Down syndrome Monosomy of the X chromosome. = Turner syndrome Duplication of a segment of chromosome 15. = Beckwith-Wiedemann syndrome Inversion of a segment of chromosome 16. = Inv dup(16)
Which disorder is characterized by symptoms that are more severe in males and includes minor to severe mental retardation?
Fragile X
Which disorder involves webbed neck, short stature, and impaired spatial abilities?
XO (Turner)
Which disorder is associated with sterility, small testes, and underdeveloped secondary sex characteristics?
XXY (Kleinfelter's Syndrome)
Which disorder typically involves a tendency to low IQ, especially verbal, in males?
XYY
Which disorder affects females and can include menstrual irregularities and learning disorders?
XXX (triple X)
Match the following sex chromosome abnormalities with their corresponding symptoms:
XYY = Male; tall structure; tendency to low IQ, especially verbal XXX (triple X) = Female; normal appearance, menstrual irregularities, learning disorders, mental retardation XXY (Kleinfelter's Syndrome) = Male; sterility, underdeveloped secondary sex characteristics, small testes, learning disorder XO (Turner) = Female; short stature, webbed neck, impaired spatial abilities, no menstruation, infertility, underdeveloped sex organs, incomplete development of secondary sex characteristics
Match the following sex chromosome disorders with their key features:
XYY = Male; tall structure XXX (triple X) = Female; learning disorders, normal appearance XXY (Kleinfelter's Syndrome) = Male; underdeveloped secondary sex characteristics Fragile X = Minor to severe mental retardation; symptoms more severe in males
Individuals with XYY syndrome tend to have higher than average IQ, especially verbal.
False
Turner syndrome (XO) affects females and can lead to short stature and infertility.
True
Fragile X syndrome is the most common inherited form of mental retardation.
True
Triple X syndrome (XXX) leads to male sterility and underdeveloped secondary sex characteristics.
False
Individuals with Kleinfelter's syndrome (XXY) are typically females with learning disorders and menstrual irregularities.
False
Cri du chat syndrome involves a deletion in the short arm of chromosome 5.
True
Klinefelter syndrome is caused by a trisomy of the X chromosome.
False
Down syndrome is associated with a trisomy of chromosome 22.
False
Turner syndrome results from monosomy of the X chromosome.
True
Prader-Willi syndrome involves a deletion in the short arm of chromosome 15.
False
Study Notes
Chromosomal Abnormalities
- Alpha-1 Antitrypsin deficiency is a genetic disorder caused by a mutation on chromosome 14, leading to enzyme deficiency, cirrhosis of the liver, and emphysema, typically manifesting in middle age.
Hematological Disorders
- Alpha Thalassemia is a severe anemia caused by a mutation on chromosome 16, reducing the blood's ability to carry oxygen, resulting in stillbirth or death soon after birth in almost all affected infants.
- Beta Thalassemia (Cooley's anemia) is a severe anemia caused by a mutation on chromosome 11, leading to weakness, fatigue, and frequent illness, typically resulting in death in adolescence or young adulthood.
- Sickle cell Anemia is a genetic disorder characterized by deformed, fragile red blood cells that can clog blood vessels, depriving the body of oxygen, with symptoms including severe pain, stunted growth, frequent infections, leg ulcers, gallstones, susceptibility to pneumonia, and stroke.
Neurological Disorders
- Anencephaly is a condition where brain tissues are absent, resulting in stillbirth or death soon after birth.
- Tay-Sachs Disease is a degenerative disease of the brain and nerve cells, caused by a mutation, resulting in death before age 5.
- Spina Bifida is a condition where the spinal canal is incompletely closed, resulting in muscle weakness or paralysis, loss of bladder and bowel control, and often accompanied by hydrocephalus, leading to mental retardation.
Metabolic Disorders
- Phenylketonuria (PKU) is a metabolic disorder caused by a mutation, resulting in mental retardation.
Pulmonary and Renal Disorders
- Cystic Fibrosis is a genetic disorder caused by a mutation on chromosome 7, characterized by overproduction of mucus, which collects in the lung and digestive tract, resulting in stunted growth and usually death before age 30.
- Polycystic Kidney disease has an infantile form, leading to enlarged kidneys, respiratory problems, and congestive heart failure, while the adult form is characterized by kidney pain, kidney stones, and hypertension, resulting in chronic kidney failure.
Muscular Disorders
- Duchenne Muscular Dystrophy is a fatal disease usually found in males, caused by a mutation on the X sex chromosome, marked by muscle weakness and minor mental retardation, resulting in respiratory failure and death usually in young adulthood.
- Hemophilia is a genetic disorder caused by a mutation on the X sex chromosome, characterized by excessive bleeding, usually affecting males, and can lead to crippling arthritis in adulthood.
Chromosomal Abnormalities
- Alpha-1 Antitrypsin deficiency is a genetic disorder caused by a mutation on chromosome 14, leading to enzyme deficiency, cirrhosis of the liver, and emphysema, typically manifesting in middle age.
Hematological Disorders
- Alpha Thalassemia is a severe anemia caused by a mutation on chromosome 16, reducing the blood's ability to carry oxygen, resulting in stillbirth or death soon after birth in almost all affected infants.
- Beta Thalassemia (Cooley's anemia) is a severe anemia caused by a mutation on chromosome 11, leading to weakness, fatigue, and frequent illness, typically resulting in death in adolescence or young adulthood.
- Sickle cell Anemia is a genetic disorder characterized by deformed, fragile red blood cells that can clog blood vessels, depriving the body of oxygen, with symptoms including severe pain, stunted growth, frequent infections, leg ulcers, gallstones, susceptibility to pneumonia, and stroke.
Neurological Disorders
- Anencephaly is a condition where brain tissues are absent, resulting in stillbirth or death soon after birth.
- Tay-Sachs Disease is a degenerative disease of the brain and nerve cells, caused by a mutation, resulting in death before age 5.
- Spina Bifida is a condition where the spinal canal is incompletely closed, resulting in muscle weakness or paralysis, loss of bladder and bowel control, and often accompanied by hydrocephalus, leading to mental retardation.
Metabolic Disorders
- Phenylketonuria (PKU) is a metabolic disorder caused by a mutation, resulting in mental retardation.
Pulmonary and Renal Disorders
- Cystic Fibrosis is a genetic disorder caused by a mutation on chromosome 7, characterized by overproduction of mucus, which collects in the lung and digestive tract, resulting in stunted growth and usually death before age 30.
- Polycystic Kidney disease has an infantile form, leading to enlarged kidneys, respiratory problems, and congestive heart failure, while the adult form is characterized by kidney pain, kidney stones, and hypertension, resulting in chronic kidney failure.
Muscular Disorders
- Duchenne Muscular Dystrophy is a fatal disease usually found in males, caused by a mutation on the X sex chromosome, marked by muscle weakness and minor mental retardation, resulting in respiratory failure and death usually in young adulthood.
- Hemophilia is a genetic disorder caused by a mutation on the X sex chromosome, characterized by excessive bleeding, usually affecting males, and can lead to crippling arthritis in adulthood.
Chromosomal Abnormalities
Deletion Abnormalities
- Cri du chat syndrome is caused by a deletion in the short arm of chromosome 5.
- Prader-Willi syndrome is caused by a deletion in the long arm of chromosome 15.
- Angelman syndrome is caused by a deletion in the short arm of chromosome 15.
- DiGeorge syndrome is caused by a deletion in the long arm of chromosome 22.
Trisomy Abnormalities
- Down syndrome is caused by a trisomy of chromosome 21.
- Klinefelter syndrome is caused by a trisomy of the X chromosome.
Duplication Abnormalities
- Beckwith-Wiedemann syndrome is caused by a duplication of a segment of chromosome 15.
Translocation Abnormalities
- Philadelphia chromosome is caused by a translocation between chromosomes 9 and 22.
Inversion Abnormalities
- Inv dup(16) is caused by an inversion of a segment of chromosome 16.
Monosomy Abnormalities
- Turner syndrome is caused by a monosomy of the X chromosome.
Sex Chromosome Abnormalities
XYY Syndrome
- Affects males, characterized by tall stature and tendency to low IQ, particularly in verbal skills
Triple X Syndrome (XXX)
- Affects females, leading to normal physical appearance but menstrual irregularities, learning disorders, and mental retardation
Klinefelter's Syndrome (XXY)
- Affects males, causing sterility, underdeveloped secondary sex characteristics, small testes, and learning disorders
Turner Syndrome (XO)
- Affects females, resulting in short stature, webbed neck, impaired spatial abilities, and infertility due to underdeveloped sex organs and incomplete secondary sex characteristics
- No menstruation occurs in individuals with Turner Syndrome
Fragile X Syndrome
- Causes minor to severe mental retardation, with symptoms more severe in males
- Characterized by delayed speech and motor development, speech impairments, and hyperactivity
- The most common inherited form of mental retardation
Sex Chromosome Abnormalities
XYY Syndrome
- Affects males, characterized by tall stature and tendency to low IQ, particularly in verbal skills
Triple X Syndrome (XXX)
- Affects females, leading to normal physical appearance but menstrual irregularities, learning disorders, and mental retardation
Klinefelter's Syndrome (XXY)
- Affects males, causing sterility, underdeveloped secondary sex characteristics, small testes, and learning disorders
Turner Syndrome (XO)
- Affects females, resulting in short stature, webbed neck, impaired spatial abilities, and infertility due to underdeveloped sex organs and incomplete secondary sex characteristics
- No menstruation occurs in individuals with Turner Syndrome
Fragile X Syndrome
- Causes minor to severe mental retardation, with symptoms more severe in males
- Characterized by delayed speech and motor development, speech impairments, and hyperactivity
- The most common inherited form of mental retardation
Sex Chromosome Abnormalities
XYY Syndrome
- Affects males, characterized by tall stature and tendency to low IQ, particularly in verbal skills
Triple X Syndrome (XXX)
- Affects females, leading to normal physical appearance but menstrual irregularities, learning disorders, and mental retardation
Klinefelter's Syndrome (XXY)
- Affects males, causing sterility, underdeveloped secondary sex characteristics, small testes, and learning disorders
Turner Syndrome (XO)
- Affects females, resulting in short stature, webbed neck, impaired spatial abilities, and infertility due to underdeveloped sex organs and incomplete secondary sex characteristics
- No menstruation occurs in individuals with Turner Syndrome
Fragile X Syndrome
- Causes minor to severe mental retardation, with symptoms more severe in males
- Characterized by delayed speech and motor development, speech impairments, and hyperactivity
- The most common inherited form of mental retardation
Chromosomal Abnormalities
Deletion Abnormalities
- Cri du chat syndrome is caused by a deletion in the short arm of chromosome 5.
- Prader-Willi syndrome is caused by a deletion in the long arm of chromosome 15.
- Angelman syndrome is caused by a deletion in the short arm of chromosome 15.
- DiGeorge syndrome is caused by a deletion in the long arm of chromosome 22.
Trisomy Abnormalities
- Down syndrome is caused by a trisomy of chromosome 21.
- Klinefelter syndrome is caused by a trisomy of the X chromosome.
Duplication Abnormalities
- Beckwith-Wiedemann syndrome is caused by a duplication of a segment of chromosome 15.
Translocation Abnormalities
- Philadelphia chromosome is caused by a translocation between chromosomes 9 and 22.
Inversion Abnormalities
- Inv dup(16) is caused by an inversion of a segment of chromosome 16.
Monosomy Abnormalities
- Turner syndrome is caused by a monosomy of the X chromosome.
Learn about various chromosomal abnormalities, including Alpha Antitrypsin deficiency, Alpha Thalassemia, and Beta Thalassemia, and their effects on human health.
Make Your Own Quizzes and Flashcards
Convert your notes into interactive study material.
Get started for free
