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By:
Laura Cross
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Decks in this class (24)
Triploidy
What is triploidy,
Digyny,
Diandry
15
cards
Chromosomes
Basic features of a chromosome,
Types of chromosomes by shape,
Types of chromatin
25
cards
Lysosomal Storage Disorders
Gaucher type i,
Gaucher type ii,
Gaucher type iii
21
cards
Dysmorphology
Dysmorphology,
Classification of observable diff...,
Major malformations
17
cards
Developmental Delay
Developmental milestones,
Gross motor milestones,
Fine motor milestones
33
cards
Fatty-Acid Oxidation Disorders
Vlcad deficiency enzyme gene info,
Vlcad deficiency phenotype,
Lchad deficiency enzyme gene info
10
cards
Urea Cycle Disorders
N acetylglutamate synthase defici...,
Carbamyl phosphate synthetase def...,
Ornithine transcarbamylase defici...
7
cards
Disorders of Amino Acid Metabolism
Phenylketonuria pku,
Maple syrup urine disease msud,
Homocystinuria
7
cards
Multifactorial Conditions
Polygenic,
Multifactorial,
Characteristics
8
cards
Syndromes a GC should recognize
Gestalt,
Syndrome,
Malformation
44
cards
Mitochondrial Disorders
Barth syndrome,
Kearns sayre syndrome,
Leigh disease
19
cards
Cancer
3 types of cancer family assessment,
Brca1 2 associated cancers 5,
Cdh1 associated cancers
28
cards
GC History
Galton,
First genetic counseling center d...,
First department of medical genet...
7
cards
Prenatal
Diagnostic techniques 3,
Chorionic villus sampling,
Amniocentesis
28
cards
Cardio Genetics
What is the hearts pacemaker,
Electrocardiogram ecg ekg,
Electrocardiogram terminology p w...
49
cards
Pedigree Analysis
Autosomal dominant criteria,
Ad considerations,
Autosomal recessive criteria
7
cards
Syndromes Every Geneticist Should Know (ACMG)
22q11 deletion digeorge velocardi...,
Alagille syndromecardio system,
Brugada syndromecardio system
63
cards
Cancer syndrome to consider based on indication
5 cumulative basal cell carcinoma...,
Brain tumor dx before 18,
Brain tumor and two additional ca...
78
cards
Cancer Syndrome Criteria
Spotty skin pigmentation on lips ...,
Large cell calcifying sertoli cel...,
Myxoma cutaneous and mucosal
80
cards
Metabolic - General
When to consider a metabolic diso...,
Symptoms of urea cycle disorders,
Symptoms of organic acidemias
8
cards
Psychosocial
Cultural competence,
Cultural sensitivity,
Stereotype
45
cards
Teratogens
Infection may be acquired through,
Infections acquired through vener...,
Infections acquired through respi...
28
cards
Buzzwords for Syndromes
Cherry red spot eye finding,
Madelung deformity abnormality of...,
Molar tooth sign mri
5
cards
Differential Diagnoses
Cherry red spot finding in the ma...,
Lisch nodules,
Chrpe congenital hypertrophy of t...
11
cards
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Comps
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