This class was created by Brainscape user Karen Marsden. Visit their profile to learn more about the creator.
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Karen Marsden
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Decks in this class (14)
3 - Chromosomal disorders
Physical features of down synd,
Clinical features of down synd,
Robertsonian translocation def
23
cards
4 - Dysmorphic features
Difference btwn malformation defo...,
Turricephaly,
Plagiocephaly
16
cards
5&6 - Inborn Errors of Metabolism
2 main presenting signs of inborn...,
Def enzyme in pku,
Problems caused by elevated phe a...
23
cards
7&8 - Cancer Genetics
0
cards
9 - CT disorders 1
Type of collagen affected by clas...,
Which type of oi is a quantitativ...,
Mutated gene in oi type 2
5
cards
10 - Genetic Testing
Minimum res of g band chromosome ...,
What can fish detect,
What is rapid fish aneuvysion use...
9
cards
11 - CT disorders 2
3 main causes of thoracic aortic ...,
Percent of marfan s due to de nov...,
2 cardinal features of marfan s
7
cards
12 - Neurogenetic disorders in adults
3 genes that cause monogenic high...,
Alleles that predict disposition ...,
Genes responsible for ad and ar p...
8
cards
13 - Neurogenetic d/o in kids
Juvenile huntington s is more lik...,
Pathophys of huntingtons,
Assoc sx in myotonic dystrophy
16
cards
14 - Hearing loss
Difference between genetically he...,
Branchio oto renal syndrome,
Hearing loss long qt history of s...
9
cards
Prenatal Screening
1st tm prenatal screening,
Papp a,
Betahcg findings in prenatal scre...
8
cards
Sexual Development Disorders
Nrob1 dax,
Turner syndrome complications,
Mc aneuploidy of sex chromosomes
11
cards
Misc Peds Disorders
Glutaric aciduria type 1,
Dx criteria for nf1,
Tuberous sclerosis
4
cards
Misc Adult Disorders
Diagnostic criteria clinical for ...,
Genetics of adpkd,
Diagnostic criteria for hht
7
cards
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Genetics
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