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Sara Blankenship
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Decks in this class (43)
Rasopathies
Cardiofaciocutaneous syndrome 1,
Costello syndrome 2,
Nf1 genetics 3
9
cards
Psychosocial terms
5 stages of grief 1,
Psychological abcs 2,
Transference 3
15
cards
Coping strategies
Confronting 1,
Distancing 2,
Self controlling 3
10
cards
General Population Screening
Screening by ethnicity 1,
Criteria for inclusion on nbs 2,
Features ideal screening tests 3
15
cards
Cardiovascular disorders
Brugada 1,
Catecholaminergic polymorphic ven...,
Cerebral autosomal dominant atter...
13
cards
Ciliopathies
Alstrom syndrome 1,
Bardet biedl 2,
Joubert syndrome 3
9
cards
Coagulopathies
Hemophilia a factor 8 1,
Hemophilia b factor 9 2,
Factor v leiden thrombophilia 3
4
cards
Hemoglobinopathies
Alpha thalassemia 1,
Beta thalassemia 2,
Sickle cell anemia 3
12
cards
Skeletal Dysplasia
Achrondoplasia 1,
Antley bixler syndrome 2,
Cleidocranial dysplasia 3
26
cards
Clinical genetics
Give examples of genetic syndrome...
1
cards
Overgrowth syndromes
Klippel trenaunay weber syndrome ...,
Proteus syndrome 2,
Simpson golabi behmel syndrome 3
6
cards
Connective tissue disorders
Congenital contractural arachnoda...,
Cutis laxa 2,
Classic eds 3
14
cards
Chromosome Breakage Disorders
Ataxia telengectasia 1,
Bloom syndrome 2,
Cockayne syndrome 3
8
cards
Key Symptoms
Valproic acid anti convulsant exp...,
Maternal diabetes 2,
Trisomy 13 3
18
cards
Miscellaneous Syndrome: X linked
Aarskog syndrome aarskog scott fa...,
Aarskog syndrome aarskog scott fa...,
X linked agammaglobulinemia 3
25
cards
Key Symptoms: Metabolics
Alkaptonuria 1,
Msud 2,
Pku 3
24
cards
Key Features: Cancer & Cardiac
Carney complex 1,
Hboc 2,
Fap 3
26
cards
Key Feautres: Ciliopathies, Hemoglobinopathies, Coag
Bardet biedl 1,
Joubert 2,
Meckel gruber 3
11
cards
Key Features: Mito and Neuromuscular
Mito disorders 1,
Barth 2,
Leigh 3
15
cards
Key Features: Overgrowth, Rasopathies, Trinucleotide repeats
Ktw syndrome 1,
Proteus 2,
Simpson golabi behmel 3
19
cards
Key Features: Sex disorders and skeletal dysplasias
21 hydroxylase deficiency 1,
Kallman 2,
Xl adrenal hypoplasia congenita 3
14
cards
Psychosocial
Define transference 1,
What are the five transference re...,
Define countertransference 3
24
cards
Genetic Counseling Pirnicples
According to acmg guidelines what...,
What is a code of ethics and what...,
What is included in the nsgc code...
15
cards
Cancer models
What does the gail model estimate...,
What factors are not included in ...,
What does the claus model estimat...
10
cards
HBOC
Identify the genes or syndromes c...,
What features indicate an increas...,
Describe two disorders that are g...
12
cards
Cancer, CRC
What are known risk factors for c...,
What percentage of colon cancers ...,
Identify the syndromes that accou...
19
cards
Hereditary cancer miscellaneous
Identify the pathology findings o...,
Identify the syndromes that accou...,
Identify the tumors associated wi...
14
cards
Neuromuscular: Cheat sheet
Duchenne muscular dystrophy 1,
Becker muscular dystrophy 2,
Myotonic dystrophy mild 3
11
cards
Neuromuscular
Friedrich s ataxia frda 1,
Friedrich s ataxia major features 2,
Spinal and bulbar atrophy sma ken...
23
cards
Lysosomal Storage Disease
Gaucher genetics 1,
Gaucher disease type i 2,
Gaucher disease type ii 3
28
cards
Amino Acid Disorders
Alkaptonuria genetics 1,
Alkaptonuria features and treatme...,
Homocystinuria genetics 3
14
cards
Fatty Acid Oxidation Disorders
General features of fao disorders 1,
Fao types 2,
Fao labs and treatment 3
7
cards
Organic Acidemias and Urea Cycle Disorders
Isovaleric acidemia genetics 1,
Isovaleric acidemia features 2,
Lesch nyhan syndrome 3
14
cards
Miscellaneous Biochem
Alpha 1 antitrypsin deficiency aa...,
Alpha 1 antitrypsin deficiency aa...,
Canavan disease 3
11
cards
Glycogen Storage Disorder
Von gierke disease glycogen stora...,
Von gierke disease glycogen stora...,
Gsd i treatment 3
14
cards
Imprinting Disorders
Chromosomes where imprinting shou...,
Russell silver silver russell syn...,
Russell silver major features 3
11
cards
Microdeletion and Microduplication syndromes
Monosomy 1p36 1p36 deletion syndr...,
Monosomy 1p36 2,
Monosomy 1p36 3
16
cards
Mitochondrial Diseases
Common features of mito diseases 1,
Nuclear encoded mito disorders 2,
Barth syndrome genetics 3
20
cards
Miscellaneous syndromes: Autosomal Recessive
Familial dysautonomia hereditary ...,
Familial dysautonomia hereditary ...,
Familial mediterranean fever gene...
16
cards
Miscellaneous syndromes: Autosomal Dominant
Alagille syndrome genetics 1,
Alagille syndrome major features 2,
Alzheimer s disease early onset g...
24
cards
Disorder of sexual dysmorphism
21 hydroxylase deficiency congeni...,
21 hydroxylase deficiency congeni...,
Androgen insensitivity genetics 3
8
cards
Cytogenetics
Robertsonian translocations 1,
Reciprocal translocations 2,
Philadelphia chromosome 3
4
cards
Hardy Weinberg Law
What is the hardy weinberg equati...,
Hardy weinberg assumptions 2,
Violations of hw assumptions rand...
10
cards
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Boards
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