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32 Cards in this Set
- Front
- Back
List common features of down syndrome? |
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Karyotypes causing down syndrome? |
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Link between down syndrome and hypothyroidism? |
increased chance |
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List some indications for chromosomal analysis in pediatric patients |
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When to do FISH? |
submicroscopic deletions |
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How to exclude mosaicism |
virtually impossible but, results can imply baby is probably not mosaic use cytogenetics |
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Risk factors for down syndrome |
can be born to any couple, regardless of age chance, though, increases as mother's age increases |
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How common is Down Syndrome in US? |
1/700 births |
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Risk of CVS? |
Direct diagnostic test slight risk of causing miscarrage Amnio, as well, has this risk |
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How to screen for Down Syndrome? |
measure of maternal serum detailed ultrasonography, nuchal skin thickness, nasal bone ossification, other growth parameters |
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What is fragile X syndrome? |
X-linked disease caused by inheritance of abnormal number of CGG repeats in FMR1 gene |
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Physical features of fragile X syndrome? |
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What is the most common genetic cause of intellectual disability? |
With the exception of Down syndrome, Fragile X syndrome is the most common genetic cause ofintellectual disability.
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List two disorders of sex chromosomes |
Turner Syndrome Klinefelter syndrome |
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Physical findings of turner syndrome? |
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Is turner syndrome common? |
1/2000 females |
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Findings of klinefelter syndrome? |
normal appearing at birth may not be diagnosed until adulthood infertility due to testicular atrophy eunochoid body habitus gynecomastia IQ varies |
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Differences between 47 XXX or 47 XYY? |
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List some common trisomies |
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Trisomy 13 |
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Trisomy 18 |
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Trisomy 21 |
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Is short stature common in down syndrome? |
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How to encourage parental advocacy? |
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How to share difficult news? |
SPIKES! families need time to process a diagnosis and its medical implications |
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DDx of hypotonia in a newborn? |
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Down syndrome |
Remember that almost all of the findings in can be seen individually in people who do not haveDown syndrome. It is the combination of findings that separates a syndrome from normalvariation
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Benign neonatal hypotonia |
Generally not associated with unusual facial or hand features
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Zellweger syndrome |
Infants with Zellweger syndrome-a peroxisomal disorder-are generally hypotonic and poorlyresponsive.
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Family resemblance |
While family resemblance may account for one or two clinical findings in a child, it is usually notseveral findings associated with a syndrome.
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Diagnostic tests for trisomy 21? |
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Follow up evaluation for children with down syndrome? |
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