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15 Cards in this Set
- Front
- Back
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most common cause of triploidy? what do these develop into?
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Dispermy
15% result in spontaneous abortions Most become partial hydatidiform mole can have live births, but they will die shortly after |
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hydatidiform moles must be treated to prevent the risk of what?
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Choriocarcinoma
these are very serious and can kill your pt remember Triploidy is the cause of hydatidiform moles |
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which Trisomy is most likely to occur at all?
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they all occur at the same rate...just some (like Downs) are viable
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Small ears
Flat nasal bridge Epicanthal folds Upslanting palpebral fissures Tendency to keep mouth open with protruding tongue signs of what? |
Down Syndrome
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what are brushfield spots associated with?
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Down Syndrome
seen in eyes |
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what are some of the complications of down syndrome?
What is a common late in life finding of downs syndrome pts?** |
Mental retardation (IQ 30-50)
Congenital heart disease Short stature (100%) Hypotonia Reduced fertility in males Hearing loss (80%) Unstable cervical spine (15%) Leukemia (1%) Hypothyroidism (7%) Seizures (1-10%) Immunodeficiency Alzheimer--Later in life** |
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when screening for downs, why is maternal age so important?
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higher incidence of non-disjunction as person gets older (true for all aneuplodies)
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maternal Alpha-fetoprotein (AFP) levels can be a marker for what 2 things
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Downs
Open neural tube defects (gastrochistisis--however that is spelled) |
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why do we screen mothers at 35?
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Chance of detecting a
chromosome abnormality exceeds risk of miscarriage due to amniocentesis or chorionic villus sampling |
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child is born with the inability to open their hands because their pointer and pinky fingers overlap their middle and ring finger. What does this kid have? what other physical findings might you suspect?
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TRISOMY 18--EDWARDS
also might see rockerbottom foot, fawnlike ears, narrow hips, prominent occiput |
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Holoprosencephaly
Cleft lip/palate Prominent proboscis Cyclopia can be seen in what genetic problem? |
Patau syndrome: Trisomy 13
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Webbed neck
No breast development Broad chest Short stature what is this |
XO Turners
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what are hygromas? associated with?
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Hygromas are produced by nuchal and generalized lymphatic edema, often resulting in hydrops fetalis
associated with Turners |
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Gynecomastia
Hypogonadism Eunuchoid habitus (child in shape) what is this? |
Klienfelters XXY
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ADHD has increased incidence in which aneuploidy?
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Klienfelter's Syndrome (XXY)
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