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13 Cards in this Set
- Front
- Back
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What is the incidence of congenital heart defects?
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0.5-1%
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What is the incidence of pediatric hospital admissions due to genetic disorders?
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10-50%
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What inheritance pattern does Hunter Syndrome follow?
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X linked
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Retinal "cherry red spot" is associated with what inborn error of metabolism?
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beta-hexosaminidase A deficiency
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Hurler syndrome involves a deficiency of what?
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Alpha-1-iduronidase deficiency
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Medium chain acyl-CoA dehydrogenase deficiency is found in what disease?
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Hypoketotic hypoglycemia
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Propionyl-CoA carboxylase deficiency has these characteristics:
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ketosis, hypoglycemia, hyperammonemia, metabolic acidosis
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Tetrahydrobiopterin deficiency leads to :
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hyperphenylalinenemia
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prominent occiput, small mouth, short sternum, heart defect (VSD, PDA), dorsiflexed halluces and hammer toes
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Trisomy 18
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submucosal cleft soft palate, anamalous ears, micrognathia, hypernasial speech, nasopharyngeal reflux, hypocalcemia, and tetralogy of Fallot.
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22q11.2
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brachycephaly, single palmar flexion crease, clinodactyly of the 5th finger and atrioventricular canal.
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Down Syndrome
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Micropthalmia, cleft lip, postaxial polydactyly and scalp defects, holoprosencephal and VSD. T
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Trisomy 13
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Generally above average height, small testes, infertile
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Klinefelter syndrome
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