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Alyssa Smith
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Decks in this class (22)
Fragile X
What gene is affected in fragile ...,
How is fragile x inherited,
What two factors cause disease in...
16
cards
Williams Syndrome
What causes williams syndrome,
What is the sex distribution for ...,
Name 7 facial features of william...
19
cards
Down Syndrome
How is down syndrome inherited na...,
How effective is first trimester ...,
What is a risk factor for down sy...
24
cards
Trisomy13/18
Name 12 features of trisomy 13 pa...,
What is the prognosis of patau sy...,
What is the incidence of t13
6
cards
Angelman Syndrome
What causes angelman syndrome nam...,
Name 5 facial features of angelma...,
Name 4 neurologic manifestations ...
6
cards
Beckwith-Wiedemann Syndrome
How is beckwith wiedemann syndrom...,
What are 3 classic features of be...,
Name 5 facial features of beckwit...
11
cards
Achondroplasia
True or false achondroplasia is t...,
How is achondroplasia inherited,
True or false advanced maternal a...
19
cards
Prader Willi Syndrome
Name 4 mechanisms that may cause ...,
True or false prader willi syndro...,
What is unique about growth in pr...
16
cards
Alagille Syndrome
How is alagille syndrome inherited,
What gene is affected in alagille,
What are the clinical laboratory ...
12
cards
Noonan Syndrome
True or false individuals with no...,
What group of conditions does noo...,
What is the most commonly known g...
15
cards
Marfan Syndrome
How is marfan syndrome inherited,
What gene is affected in marfan w...,
Name 8 msk features of marfan syn...
9
cards
DiGeorge Syndrome
What is the frequency of digeorge...,
True or false digeorge is the sec...,
What causes digeorge syndrome
15
cards
Turner Syndrome
What causes turner syndrome,
Name 4 neonatal features of turne...,
Name 7 facial features of childre...
11
cards
Inherited Bone Marrow Disorders
What gene is affected in diamond ...,
How is diamond blackfan syndrome ...,
When do symptoms of diamond black...
28
cards
Smattering of 15 Random Disorders
What gene is affected in smith le...,
Name 9 facial features of smith l...,
Name 2 eye features of smith leml...
50
cards
NF1
List the nf1 clinical criteria fo...,
How is nf1 inherited what proport...,
How do you diagnose nf 1
7
cards
Hereditary Tyrosinemia
Fumarylacetoacetate faa gets turn...,
If an individual has decreased or...,
Name 3 clinical features of indiv...
13
cards
Maple Syrup Urine Disease
What enzyme group is deficient in...,
What amino acids are broken down ...,
How is maple syrup urine disease ...
10
cards
Homocystinuria
What causes homocystinuria,
What substrate are you unable to ...,
How is homocystinuria inherited
6
cards
Organic Acidemias
What are organic acids,
What happens if there is defectiv...,
How are organic acidemias inherited
25
cards
Urea Cycle Disorders
What is the function of the urea ...,
True or false metabolic acidosis ...,
What symptoms would a neonate wit...
14
cards
Hereditary Fructose Intolerance
What enzyme is deficient in hered...,
How do you diagnose hereditary fr...,
What are the typical symptoms in ...
10
cards
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genetics
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