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MCBM EXAM 3 - CLARK Questions with 100% Correct Answers $8.00   Add to cart

Exam (elaborations)

MCBM EXAM 3 - CLARK Questions with 100% Correct Answers

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  • Course
  • MCBM
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  • MCBM

MCBM EXAM 3 - CLARK Questions with 100% Correct Answers

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  • September 4, 2024
  • 32
  • 2024/2025
  • Exam (elaborations)
  • Questions & answers
  • MCBM
  • MCBM
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codersimon
1 of 51

Definition



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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