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MCBM EXAM 3 - CLARK Questions with 100% Correct Answers
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MCBM EXAM 3 - CLARK Questions with 100% Correct Answers
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1 of 51Definition
most common lethal bone dysplasia
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absence of normal mechanical skeletal dysplasia:
force - thanatophoric dysplasia
, entrapment in a bifid uterus can
skeletal dysplasia: achondroplasia
cause
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2 of 51
Definition
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entrapment in a bifid uterus can skeletal dysplasia: thanatophoric
cause dysplasia
leading cause of death in term genetic tests: specific uses
newborns and limitations
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3 of 51
Definition
hypoperfusion/hypoxia of cord, dec fetal movement,
low M mass, policemans tip position arm, ubilical cord
,or anmiotic band - cirumferential constriction
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deformation - Potter sequence Disruption amyoplasia
sanger vs next gen seq disruption - teratogen
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4 of 51
Definition
-DNA seq based on premature chain termination
-adds small dideoxynucleotides to cut into fragments, sort on gel
electrophoresis, four separate exp, run once for each base,
computer stuff
-limitations - large deletions/duplications (1+ exons), mutations that
eliminate splice sites, mosaicism, gene rearrangements/position
effects, mut/del up or downstream from promoter
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Aarskog syndrome VATER association
sanger sequencing CHARGE syndrome
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5 of 51
Definition
intrauterine constraint
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multiple gestations or large
skeletal dysplasia: thanatophoric
for gestation age babies can
dysplasia
cause
Extrinsic factors for abnormal
breech presentation can cause
morphogenesis
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6 of 51
Definition
auto dom, CHD7, coloboma, heart defects, choanal
atresia, retardation of growth, genital prob in males, ear
anomalies
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