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Amy Donahue
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Decks in this class (30)
Week 1: Cyto, Aneuploidy, Deletions
5 main features of t21,
Most common genetic cause of t21,
Mosacism is always a _____ event
53
cards
Biochem - Rice Article
Fatty acid oxidation disorders me...,
Fatty acid oxidation disorders sp...,
Fatty acid oxidation disorders pr...
24
cards
100 Disorders
Inheritance 1p363,
3 major clinical features 1p363,
Inheritance aarskog syndrome
368
cards
Week 1: Molecular Genetics
Stages of cell cycle,
Steps of mitosis,
Epigenetics
29
cards
Week 1: New Genomics
Karyotype resolution,
Fish resolution,
Microarray acgh
13
cards
Week 2: Genetic Counselling Principles and Practice
Analytical validity,
Clinical validity,
Analytic accuracy
22
cards
Week 2: Non-Mendelian Inheritance Patterns
Multifactorial inheritance,
Polygenic inheritance,
Studies to do to understand genet...
21
cards
Week 3: Prenatal
What do you use for carrier scree...,
Typical hb elect for sickle cell ...,
Typical hb elect for beta thal ca...
81
cards
Week 3: Ethics and Law
What 2 ethical laws are used in g...,
Autonomy,
Obligations derived from autonomy
12
cards
Infertility, ART, and Recurrent Pregnancy Loss
Infertility definition,
What percent of men with less tha...,
3 methods to treat male factor in...
9
cards
Blood Disorders
Inheritance of sickle cell anemia,
Most common point mutation in sic...,
3 features of sickle cell anemia
27
cards
Week 4: Cancer Genetics
What is the purpose of oncotype dx,
Which models can be used for a ri...,
What are some prior probability m...
108
cards
Week 4: Cardiovascular Genetics
Sudden cardiac death definition,
What percent of sudden cardiac de...,
Inheritance of familial hyperchol...
72
cards
Week 5: Syndromes with Multiple Anomalies
Inheritance of rubinstein taybi s...,
3 major features rubinstein taybi...,
Inheritance of treacher collins s...
62
cards
Week 5: Arcadia Medical Genetics
First line test for children with...,
Inheritance of fragile x syndrome,
Gene for fragile x syndrome
32
cards
Week 5: Neurogenetics
Inheritance of hd,
Trinucleotide repeat in hd,
3 major features of hd
73
cards
Week 5: Medical Genetics- Autism
3 monogenic causes of autism,
Inheritance of fragile x syndrome,
Gene in fragile x syndrome
14
cards
Week 5: Medical Genetics- Skeletal Dysplasia
Why are some skeletal dysplasias ...,
Inheritance of ellis van crevald,
What type of dwarfism in ellis va...
20
cards
Week 5: Medical Genetics- Connective Tissue
Inheritance of oi,
Two most common genes in oi,
5 major features of oi
16
cards
Week 5: Medical Genetics- Hearing Loss
Inheritance of jervell lange niel...,
2 major features of jervell lange...,
Inheritance of pendred syndrome
18
cards
Week 5: Medical Genetics- Imprinting
3 etiologies of prader willi synd...,
3 major features of pws,
What type of molecular test shoul...
11
cards
Week 5: Medical Genetics- DSDs
Inheritance of 5 alpha reductase ...,
External genitalia in 5 alpha red...,
Internal genitalia in 5 alpha red...
21
cards
Week 5: Medical Genetics- MPS
Inheritance of hurler syndrome,
Gag stored in hurler syndrome,
3 major features of hurler syndrome
31
cards
Week 5: Medical Genetics- Genodermatoses
Inheritance of ichthyosis vulgaris,
Skin features of ichthyosis vulgaris,
Inheritance of x linked ichthyosis
27
cards
Week 5: Medical Genetics-Porphyrias
Inheritance of aip,
Major feature of aip,
Triggers for acute attacks in aip
17
cards
Week 5: Medical Genetics- Movement Disorders
Inheritance of dopa responsive dy...,
2 features that accompany dopa re...,
Inheritance of myoclonus dystonia
22
cards
Week 6: Biochemical Genetics
Inheritance of pku,
Enzyme deficiency in pku,
3 major features of pku
244
cards
Week 5: Dysmorphology
Malformation,
Deformation,
Disruption
5
cards
Week 6: The Green Book
Unconditional positive regard gen...,
Stating in your own words what th...,
If youve seen a family member bef...
56
cards
Teratogens
HUMAN TERATOGENS: A CRITICAL EVALUATION
Orna Diav-Citrin, MD, Gideon Koren, MD, FACCT, FRCPC
The Motherisk Program, the Hospital for Sick Children, Toronto, Ontario, Canada
https://www.nvp-volumes.org/p2_4.htm
17
cards
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