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39 Cards in this Set
- Front
- Back
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Sickle cell trait/dz is what type of mutation
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missense
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beta-thal is what type of mutation
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nonsense
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Tay-sachs is what type of mutation
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frame-shift
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What is anticipation?
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Inc in trinucleotide repeats with each generation
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most common type of mendelian disorder
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AR
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Most enzyme def are which type of mendelian disorder
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AR
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In PKU, which aa are inc/dec?
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Inc Phe, dec tyr
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Von Gierke's dz is a def of
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glucose-6-phosphatase
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How does it present?
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hypoglycemia, HSM
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What is the most common AR disorder?
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hemachromatosis
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Pompe's dz is a def of
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a 1,4 glucosidase (lysosomal)
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early death due to
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cardiomegaly
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What is malig PKU?
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inability to metabolize trp req L-DOPA, 5HT, BH4
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most common AD disorder?
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von Willebrand
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most common X-linked d/o?
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Fragile X
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# of barr bodies =
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# X chromosomes -1
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Cri du chat is a which type of mutation?
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Deletion (chr 5)
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Down syndrome associate with 2 GI Sx:
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duodenal atresia, Hirschsprung's dz
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Trisomy 18 is
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Edward's syndrome
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Distinguishing features
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overlapping fingers
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Trisomy 13 is
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Patau's syndrome
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Distinguishing features
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Cleft lip, polydatyly, cystic kidney
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Turner's syndrome distinguishing features 3
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Webbed neck, streaked ovaries, preductal coarctation
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Klinefelter's syndrome distinguishing features 3
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Female hair distribution, soft skin, persistent gynecomastia
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A dz where affected females pass to all offspring; affected males pass to none of theirs
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Mitochondrial dz
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Prader-Willi distinguishing features 3
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hypotonia at birth, obesity, hypogonadism
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Angelman syndrome distinguishing features 2
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Wide-based gain, inappropriate laughter
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True hermaphrodite has
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both fe/male gonads
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Pseudohermaphrodite is when
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phenotype and genotype do not match
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Vagina ending as blind pouch suggests
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testicular feminization
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Malformation v. deformation
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Malformation disturbs morphogenesis; deformation in extrinsic
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Signs of fetal EtOH syndrome 3
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Wide-spread eyes, inner epicanthal folds, short nose
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maternal DM presents as
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most common cause of macrosomia
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Most common congenital inf
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CMV
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Trisomy 16 frequently causes
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spontaneous abortion
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SIDS death mostly occur before
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6m
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Retinoic acid interferes with which embryogenic genes
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HOX genes
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Most IUGR have
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oligohydramnios
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Triple marker for Down
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dec AFP, inc hCG, dec urine estriol
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