This class was created by Brainscape user - Caperton -. Visit their profile to learn more about the creator.
By:
- Caperton -
- decks
- flashcards
- learners
Decks in this class (38)
~80 Genetic Disorders
Inheritance 1p363,
3 major clinical features 1p363,
Inheritance achondroplasia
233
cards
Movement Disorders
Inheritance of dopa responsive dy...,
2 features that accompany dopa re...,
Inheritance of myoclonus dystonia
22
cards
Basic Neurogenetics: Genes & Inheritance Patterns
Inheritance of hd,
Trinucleotide repeat in hd,
3 major features of hd
73
cards
Neurogenetics: Name That Syndrome
Cmt,
Dmd,
Frda
28
cards
Syndrome & Gene
Marfan syndrome,
Legius syndrome,
Non syndromic congenital hearing ...
34
cards
Definitions
Major morphologic anomaly,
Minor morphologic anomaly,
Morphologic variant of normal
51
cards
Cytogenetics & Molecular Genetics
Define karyotype,
Define genome,
Define acrocentricgive examples o...
102
cards
Syndrome Pictures
What syndrome,
What syndrome,
What syndrome
23
cards
Metabolism
True or false inborn errors of me...,
A _______ should be suspected as ...,
Name the 3 functional categories ...
71
cards
Inborn Errors of Metabolism
What is the most common monogenic...,
What enzyme is defective in class...,
What are some clinical manifestat...
32
cards
Dysmorphology Basics
What is the prevalence of major a...,
When are most of the human struct...,
What is the prevalence of major a...
18
cards
Embryology
When do dermal ridges form on the...,
Define induction,
Name 4 classes of gdfs growth and...
30
cards
Prenatal
Name 9 conditions that acmg recom...,
What is the risk of miscarriage a...,
What are the 3 chromosomal mechan...
49
cards
Basic Concepts
What is a locus,
What are alleles,
Define the following homozygous h...
36
cards
Dysmorphology
What is dysmorphology,
What are some causes reasons for ...,
What are some ground rules for dy...
51
cards
Genetic Counseling and Risk
In what ways are genetic conditio...,
What is genetic counseling what a...,
What are indications for genetic ...
32
cards
Prenatal Genetics
What are some prenatal screening ...,
What are some methods of prenatal...,
What are some forms of preconcept...
123
cards
Inborn Errors of Metabolism 1 & 2
What is alkaptonuria,
Describe the epidemiology of inbo...,
What are predominant signs sympto...
71
cards
Neurogenetic Disorders in Adults
Of the following categories of ge...,
What is the approach classificati...,
What are dementia conditions affe...
38
cards
Neurogenetic Disorders in Pediatrics
What are nucleotide repeat disorders,
What are examples of nucleotide r...,
Where is the huntington gene loca...
48
cards
Chromosomal Disorders
What are the signs symptoms of tr...,
What is the recurrence risk for t...,
What are the clinical features of...
40
cards
GINA & DTC
What are challenges of personaliz...,
What is gina,
What does gina legislation not ad...
8
cards
Genetic Disorders You Don’t Want To Miss
Case 1 2 month old male presents ...,
Key physical exam findings of ost...,
Which oi type is the classic
37
cards
Making Sense of Genetic Testing
Different types of lab tests what...,
What genetic test is done for kno...,
What is seen here pic 815
48
cards
123 Syndromes: Name, Gene, & Inheritance
Deletion on 22q112 3 mb del most ...,
Jag1 notch2ad,
Scn5a pathogenic variants in 22 o...
138
cards
Lysosomal Storage Disorders
Gaucher type i,
Gaucher type ii,
Gaucher type iii
21
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
Multifactorial Conditions
Polygenic,
Multifactorial,
Characteristics
8
cards
Mitochondrial Disorders
Barth syndrome,
Kearns sayre syndrome,
Leigh disease
19
cards
Syndromes a GC should recognize
Gestalt,
Syndrome,
Malformation
44
cards
Syndromes Every Geneticist Should Know (ACMG)
22q11 deletion digeorge velocardi...,
Alagille syndromecardio system,
Brugada syndromecardio system
63
cards
Metabolic - General
When to consider a metabolic diso...,
Symptoms of urea cycle disorders,
Symptoms of organic acidemias
8
cards
Chromosomes
Basic features of a chromosome,
Types of chromosomes by shape,
Types of chromatin
25
cards
Mitochondrial
What are the products of anaerobi...,
What happens to pyruvate with and...,
What could elevations in pyruvate...
23
cards
Molecular Genetics
Name 4 control points for gene ex...,
What are the four bases for dna,
What is thymine s rna equivalent
36
cards
Biochem/metabolic
Sweaty foot odor,
When should you consider a metabo...,
How is homocystinuria different t...
75
cards
Fragile X
True or false fragile x syndrome ...,
Mutation that causes fragile x,
Symptoms of fragile x syndrome
11
cards
More about
x_NeuroGenetics Review
- Class purpose General learning
Learn faster with Brainscape on your web, iPhone, or Android device. Study - Caperton -'s x_NeuroGenetics Review flashcards now!
How studying works.
Brainscape's adaptive web mobile flashcards system will drill you on your weaknesses, using a pattern guaranteed to help you learn more in less time.
Add your own flashcards.
Either request "Edit" access from the author, or make a copy of the class to edit as your own. And you can always create a totally new class of your own too!
What's Brainscape anyway?
Brainscape is a digital flashcards platform where you can find, create, share, and study any subject on the planet.
We use an adaptive study algorithm that is proven to help you learn faster and remember longer....
