Podcast
Questions and Answers
What is the most common chromosomal abnormality associated with Turner Syndrome?
What is the most common chromosomal abnormality associated with Turner Syndrome?
- 45, X karyotype (correct)
- XXY karyotype
- Trisomy 21
- Deletion of chromosome 5
What best describes the survival rate of fetuses with Turner syndrome?
What best describes the survival rate of fetuses with Turner syndrome?
- Survival rate is similar to that of a normal fetus.
- Less than 50% survive to term with medical intervention.
- Approximately 2% survive to term through spontaneous means. (correct)
- Approximately 98% survive to term.
What is a common physical characteristic observed in individuals with Turner syndrome?
What is a common physical characteristic observed in individuals with Turner syndrome?
- Presence of ovaries with proper function
- Ovarian production, and regular menstruation cycles
- Excessive height and limb length
- Short stature and absence of ovaries (correct)
Which of these is a typical skeletal manifestation seen in individuals with Turner syndrome?
Which of these is a typical skeletal manifestation seen in individuals with Turner syndrome?
Which physical traits are often displayed by a child with Turner Syndrome? (Select all that apply)
Which physical traits are often displayed by a child with Turner Syndrome? (Select all that apply)
Flashcards
Monosomy
Monosomy
A genetic condition occurring when a single copy of a chromosome is present instead of the usual two.
Turner Syndrome
Turner Syndrome
The only monosomy compatible with life, characterized by the absence of ovaries, short stature, and other distinctive physical features.
Webbed Neck
Webbed Neck
A common feature of Turner Syndrome, involving a web-like appearance of skin extending from the neck to the shoulders.
Broad Chest with Widely Spaced Nipples
Broad Chest with Widely Spaced Nipples
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Lymphedema of Extremities
Lymphedema of Extremities
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Study Notes
Monosomy
- Turner syndrome, with a 45, X karyotype, is the only monosomy compatible with life.
- Even then, 98% of fetuses with the syndrome are spontaneously aborted.
- The few who survive are unmistakably female, with absent ovaries and short stature.
- Common associated abnormalities include webbed neck, lymphedema of the extremities, skeletal deformities, and a broad chest with widely spaced nipples.
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Description
Explore the implications of monosomy, focusing on Turner syndrome, which presents with a 45, X karyotype. This syndrome is notable for its compatibility with life, despite a high rate of spontaneous abortion. Discover the typical physical traits and associated abnormalities of those who survive.
