Podcast
Questions and Answers
Individuals with Turner Syndrome may experience all of the following EXCEPT:
Individuals with Turner Syndrome may experience all of the following EXCEPT:
Which of the following is NOT a symptom of Metafemale (Triple X) Syndrome?
Which of the following is NOT a symptom of Metafemale (Triple X) Syndrome?
Cri-Du-Chat Syndrome is caused by:
Cri-Du-Chat Syndrome is caused by:
Which of the following is a common characteristic of individuals with Metafemale (Triple X) Syndrome?
Which of the following is a common characteristic of individuals with Metafemale (Triple X) Syndrome?
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A female with Cri-Du-Chat Syndrome may exhibit:
A female with Cri-Du-Chat Syndrome may exhibit:
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What distinguishes Turner Syndrome from Klinefelter Syndrome and Metafemale (Triple X) Syndrome?
What distinguishes Turner Syndrome from Klinefelter Syndrome and Metafemale (Triple X) Syndrome?
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Which syndrome results in poor muscle tone, reduced facial and body hair growth, and delayed onset of puberty?
Which syndrome results in poor muscle tone, reduced facial and body hair growth, and delayed onset of puberty?
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Study Notes
Metafemale (Triple X Syndrome)
- Also known as Trisomy X, with 2n = 47, 44 autosomes + XXX
- Individuals are generally healthy, but slightly taller than average
- At risk for learning disabilities, but are fertile
- Caused by a random genetic error, not inherited
Cri-Du-Chat Syndrome
- Caused by a deletion of the short arm of chromosome 5
- Characterized by a high-pitched, cat-like cry
- Often associated with low birth weight, poor growth, severe cognitive, speech, and motor delays, and behavioral problems
- Not inherited, caused by a random event during formation of reproductive cells or early fetal development
Sickle-Cell Anemia (CSA)
- Hereditary single-gene disorder of the blood caused by a point mutation in the hemoglobin gene
- Causes normally disk-shaped red blood cells to become sickle or crescent-shaped
- Sickle-shaped red blood cells block blood flow in the blood vessels, leading to health problems
Hemophilia
- Blood-clotting ability is impaired due to mutation of genes on chromosome X
- Typical human karyotype contains 22 pairs of autosomal chromosomes and one pair of sex chromosomes
Chromosomes
- Autosome: any chromosome not considered a sex chromosome (22 pairs in humans)
- Sex chromosome: involved in sex determination (XX: Female or XY: Male)
Genetic Disorders
- Aneuploidy: a change in the number of chromosomes
- Nondisjunction: the inability of homologous sex chromosomes to segregate during meiosis
- Genetic Disorder: caused by an abnormality in the genetic makeup of an individual
- Heritable Genetic Disorder: caused by mutations in the germ line (sex cells) and passed from parents to offspring
- Non-Heritable Genetic Disorder: caused by mutations in the DNA of the person
Down Syndrome (Trisomy 21)
- 2n = 47, with an extra chromosome 21
- Characterized by facial features, short stature, correctable heart defects, and developmental delays
- Most cases are not inherited
Klinefelter Syndrome
- 2n = 47, with 44 autosomes + XXY
- Boys and men are born with an extra X chromosome
- Characteristics: tall stature, poor muscle tone, reduced facial and body hair, small testes, and enlarged breasts
- In adulthood: infertility, low sex drive, and small testes
- Not directly inherited
Turner's Syndrome
- 2n = 45, with 44 autosomes + X
- Characterized by: no breast development, no menstrual periods, small ovaries, low sex hormones, infertility, and short stature
- Most have normal intelligence, and it is usually not inherited
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Description
Explore an overview of genetic disorders such as Triple X Syndrome and Cri-Du-Chat Syndrome. Learn about their causes, symptoms, and characteristics. Understand the implications and management of these genetic conditions.
