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100 Syndromes to know!!

This class was created by Brainscape user Kerri Bosfield. Visit their profile to learn more about the creator.

By: Kerri Bosfield
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Decks in this class (10)

Oncologic disorders
What is the overall contribution ...,
The brca2 protien is invloved in ...,
When should woman with brca1 2 mu...
40  cards
Cardiovascular
Responsible gene indicathed in 22...,
Major electrolyte abnormality in ...,
Major heart defects found in 22q1...
33  cards
Chromosome Breakage Disorders
Chromosome translocation most com...,
50 of individials with the diagno...,
Common clinical findings found in...
9  cards
Connective tissue disorders
Marfan like appearnce 1,
What is the disease mechanism of ...,
Genes responsible for the followi...
11  cards
Dermatologic disorders/Endocrine Disorders
Partial or total alopecia 1,
Hypotrichosis hypohydrosis hypodo...,
What are the 4 stages of the char...
17  cards
Disorders of hearing and or vision
Blephoriphimosis ptosis epicanthu...,
Connexin 26 ar snhl molecular tes...,
Oculocutaneous albinism 3
17  cards
Hematologic/immunologic disorders/multiple congenital anomalies
Results from half normal activity...,
What substance is increased durin...,
Loss or dysfunction of all 4 alph...
22  cards
Neurological/Neuromuscular
Elevated vlcfa 20 females with sp...,
Post mortum beta amyloidneuotic p...,
Loss of maternall imprinted contr...
27  cards
Overgrowth/Premature Aging/Pulmonary/Renal
Beckwith wiedemann 11p15 loss of ...,
Paternal uniparental disomy chrom...,
Beckwith wiedemann gain of methyl...
14  cards
skeletal dysplasia
Rhizomelic shortening 1,
99 of achondroplasia are due to t...,
Deayed closure of cranial sutures 3
10  cards

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100 Syndromes to know!!

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