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By:
Laura Cross
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Decks in this class (24)
Triploidy
What is triploidy 1,
Digyny 2,
Diandry 3
15
cards
Chromosomes
Basic features of a chromosome 1,
Types of chromosomes by shape 2,
Types of chromatin 3
25
cards
Lysosomal Storage Disorders
Gaucher type i 1,
Gaucher type ii 2,
Gaucher type iii 3
21
cards
Dysmorphology
Dysmorphology 1,
Classification of observable diff...,
Major malformations 3
17
cards
Developmental Delay
Developmental milestones 1,
Gross motor milestones 2,
Fine motor milestones 3
33
cards
Fatty-Acid Oxidation Disorders
Vlcad deficiency enzyme gene info 1,
Vlcad deficiency phenotype 2,
Lchad deficiency enzyme gene info 3
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 1,
Maple syrup urine disease msud 2,
Homocystinuria 3
7
cards
Multifactorial Conditions
Polygenic 1,
Multifactorial 2,
Characteristics 3
8
cards
Syndromes a GC should recognize
Gestalt 1,
Syndrome 2,
Malformation 3
44
cards
Mitochondrial Disorders
Barth syndrome 1,
Kearns sayre syndrome 2,
Leigh disease 3
19
cards
Cancer
3 types of cancer family assessme...,
Brca1 2 associated cancers 5 2,
Cdh1 associated cancers 3
28
cards
GC History
Galton 1,
First genetic counseling center 2,
First department of medical genet...
7
cards
Prenatal
Diagnostic techniques 3 1,
Chorionic villus sampling 2,
Amniocentesis 3
28
cards
Cardio Genetics
What is the heart s pacemaker 1,
Electrocardiogram ecg ekg 2,
Electrocardiogram terminology p w...
49
cards
Pedigree Analysis
Autosomal dominant criteria 1,
Ad considerations 2,
Autosomal recessive criteria 3
7
cards
Syndromes Every Geneticist Should Know (ACMG)
22q11 deletion digeorge velocardi...,
Alagille syndrome cardio system 2,
Brugada syndrome cardio system 3
63
cards
Cancer syndrome to consider based on indication
5 cumulative basal cell carcinoma...,
Brain tumor dx before 18 2,
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 3
80
cards
Metabolic - General
When to consider a metabolic diso...,
Symptoms of urea cycle disorders 2,
Symptoms of organic acidemias 3
8
cards
Psychosocial
Cultural competence 1,
Cultural sensitivity 2,
Stereotype 3
45
cards
Teratogens
Infection may be acquired through 1,
Infections acquired through vener...,
Infections acquired through respi...
28
cards
Buzzwords for Syndromes
Cherry red spot eye finding 1,
Madelung deformity abnormality of...,
Molar tooth sign mri 3
5
cards
Differential Diagnoses
Cherry red spot finding in the ma...,
Lisch nodules 2,
Chrpe congenital hypertrophy of t...
11
cards
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Comps
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