Podcast
Questions and Answers
Which of the following chromosomal conditions is the only monosomy compatible with life?
Which of the following chromosomal conditions is the only monosomy compatible with life?
- Turner Syndrome (correct)
- Edwards Syndrome
- Klinefelter Syndrome
- Trisomy 21
A female with Turner syndrome would typically exhibit which of the following characteristics?
A female with Turner syndrome would typically exhibit which of the following characteristics?
- Short stature and a webbed neck (correct)
- Tall stature and a narrow chest
- Presence of ovaries and a long neck
- Normal height and normal breast development
What is the most common outcome for fetuses diagnosed with Turner syndrome?
What is the most common outcome for fetuses diagnosed with Turner syndrome?
- Full-term healthy birth
- Successful surgical correction of the syndrome's features
- Normal development beyond infancy
- Spontaneous abortion (correct)
Which of the following is NOT a typical clinical feature of Turner syndrome?
Which of the following is NOT a typical clinical feature of Turner syndrome?
Alongside the absence of ovaries, which physical trait is commonly observed in individuals with Turner Syndrome?
Alongside the absence of ovaries, which physical trait is commonly observed in individuals with Turner Syndrome?
Flashcards
Monosomy
Monosomy
A chromosomal condition where a person has only one copy of a chromosome, instead of the usual two.
Turner Syndrome (45, X)
Turner Syndrome (45, X)
The only monosomy that allows a person to survive.
What is a main characteristic of Turner Syndrome?
What is a main characteristic of Turner Syndrome?
Absence of ovaries in a female.
What are some physical signs of Turner Syndrome?
What are some physical signs of Turner Syndrome?
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What is the survival rate for Turner Syndrome?
What is the survival rate for Turner Syndrome?
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Study Notes
Monosomy and Turner Syndrome
- Monosomy is a numerical chromosomal abnormality.
- Turner syndrome (45, X) is a type of monosomy.
- Turner syndrome is the only monosomy compatible with life.
- However, 98% of fetuses with Turner syndrome are miscarried.
- Survivors have a female phenotype.
Clinical Features of Turner Syndrome
- Absence of ovaries is a key characteristic.
- Short stature is a common feature.
- Webbed neck is also an indicator.
- Lymphedema (swelling) of the extremities is present.
- Skeletal deformities occur.
- Wide-spaced nipples and a broad chest are observed.
- Prenatal and physical abnormalities are common.
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