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22 Cards in this Set
- Front
- Back
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ID has IQ cutoff of what?
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IQ < 70
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what is Williams Syndrome?
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deletion on 7q11.23 in the elastin gene (ELM) or LIM-kinase gene
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what are some phenotypic signs of Williams syndrome?
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very friendly
ADD mild ID hyperCa++ supravlavular aortic stenosis pulmonary artery stenosis distinctive facial features usually musically talented |
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T or F: Most cases of Williams Syndrome are X-linked?
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false! most are de novo deletions
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the palate begins forming in week __ and finishes in week __
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begins in 6, done at 12
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T or F: Most cases of cleft lip and cleft palate are syndromic
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true (70%)
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what percentage of isolated cleft lip/palate have a single gene etiology?
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15%
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what is the mean life expectancy of Trisomy 13?
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130 days
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what is the frequency of +13?
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1/12000 live births
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what are some sx of +13?
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microcephaly, scalp defects, clefts, microphthalmia, polydactyly, cardiac defects, renal anomalies
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what are some sx of 4p minus syndrome (Wolf-Hirschorn syndrome)?
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poor growth
dysmorphic features clefts heart defects ID |
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T or F: clefts are assoc w/ DiGeorge?
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TRUE
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what are some sx of Van der Woude Syndrome?
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very subtle
lip pits, cleft lip and/or palate |
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what is the inheritance of van der Woude Syndrome?
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AD w/ variable expression
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what causes van der Woude Syndrome?
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mutation in IRF6 gene on 1q
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what are some sx of Native American Myopathy?
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cleft palate
congenital contractures risk of malignant hyperthermia w/ GA |
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what is the inheritance of Native American Myopathy?
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AR
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T or F: clefts may be seen in FAS
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TRUE
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what is Robin Sequence?
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micrognathia
glossoptosis cleft palate |
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what is a syndromic cause of Robin Sequence?
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Stickler syndrome
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what are some sx of Stickler syndrome?
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Robin sequence
myopia/retinal detachment hearing loss arthropathy/early arthritis |
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what causes Stickler syndrome?
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mutation in one of the collagen genes (locus heterogeneity)
col2a1, col11a1, col11a2, etc. |
