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Sean Bryan
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Decks in this class (57)
Fragile X Syndrome
What type of genetic disorder is ...,
How many repeats does a normal in...,
How many repeats is the intermedi...
11
cards
Prader-Willi Syndrome
What type of genetic syndrome is ...,
What is the recurrence risk for p...,
What is the recurrence risk for i...
8
cards
Angelman Syndrome
What type of genetic disorder is ...,
What is the most sensitive single...,
What is the recurrence risk for m...
10
cards
Beckwith-Wiedemann Syndrome
What is the mode of inheritance f...,
What is the genetic defect for bws,
What are the associated medical f...
8
cards
DiGeorge Syndrome (22q11.2 Deletion Syndrome)
What is the inheritance pattern o...,
What genetic testing should be or...,
What are the associated medical f...
7
cards
Turner Syndrome
What is the inheritance for ts,
What is the recurrence risk for ts,
What gene is responsible for shor...
10
cards
Klinefelter Syndrome
What is the genetic abnormality i...,
What is the inheritance pattern o...,
What is the recurrence risk of kl...
8
cards
Neurofibromatosis-1 (NF-1)
What is the inheritance pattern o...,
What is the genetic mutation for ...,
What are the diagnostic criteria ...
8
cards
Tuberous Sclerosis
What is the inheritence pattern o...,
What is the genetic defect in tub...,
What are the associated medical f...
8
cards
Achondroplasia
What is the inheritance pattern f...,
What is the recurrence risk for a...,
What is the genetic defect in ach...
7
cards
Marfan Syndrome
What is the inheritance pattern f...,
What is the genetic defect for ma...,
What is the pathogenesis of marfan
9
cards
Wilson Disease
What is the inheritance of wilson...,
What is the genetic defect for wi...,
What is the pathophysiology of wi...
7
cards
Long QTc Syndrome
What is the inheritance of jervel...,
What are the associated medical f...,
What is the pathophysiology of je...
6
cards
Trisomy 21
What genetic patterns are possibl...,
What are the clinical manifestati...
2
cards
Trisomy 13 (Patau Syndrome)
What is the incidence,
What are the clinical manifestations
2
cards
Trisomy 18 (Edwards Syndrome)
What is the incidence of trisomy 18,
What are the clinical manifestati...
2
cards
Wolf-Hirschorn Syndrome
What is the genetic defect,
What are the clinical features
2
cards
WAGR
What is the genetic defect,
What are the clinical manifestati...
2
cards
Miller-Dieker Syndrome
What is the genetic defect,
What are the clinical features of...
2
cards
Smith-Magenis Syndrome
What is the genetic defect,
What are the clinical manifestati...
2
cards
Williams Syndrome
What is the genetic defect in wil...,
What are the clinical manifestati...
2
cards
Genetic Syndrome Images
What syndrome is this,
What syndrome does this child have,
What syndrome does this child have
39
cards
Duchenne muscular dystrophy
What is the inheritance pattern o...,
What is the mutation,
What are the clinical characteris...
3
cards
Hemophilia A and B
What is the inheritance for hemop...,
What is the mutation for hemophil...,
What is the mutation for hemophil...
4
cards
Alport Syndrome
What is the inheritance of alport,
What is the defect for alport,
What are the clinical characteris...
3
cards
MERRF
What is the inheritance for merrf,
What are the clinical features of...
2
cards
MELAS
What is the inheritance pattern f...,
What are the clinical manifestati...
2
cards
Leigh Syndrome
What is the inheritance pattern f...,
What are the clinical manifestati...
2
cards
Treacher Collins Syndrome
What is the inheritace for treach...,
What is the incidence of treacher...,
What are the clinical manifestati...
3
cards
Cornelia de Lange
What is the inheritance pattern f...,
What are the clinical manifestati...
2
cards
CHARGE syndrome
What is the inheritance of charge...,
What is the mutation for charge s...,
What are the clinical manifestati...
3
cards
Osteogenesis Imperfecta
What is the inheritance of oi,
Which type is lethal in the newbo...,
What are the clinical manifestati...
3
cards
Noonan Syndrome
What is the inheritance pattern o...,
What are the clinical manifestati...
2
cards
Meckel-Gruber Syndrome
What is the inheritance pattern o...,
What are the clinical manifestati...
2
cards
VACTERL
What are the clinical manifestati...
1
cards
Goldenhar Syndrome
What are other names for goldenha...,
What does this syndrome involve,
What is the inheritance pattern f...
4
cards
Denys Drash Syndrome
What is the associated genetic mu...,
What are the features of denys dr...
2
cards
Sotos
What is the inheritance of sotos ...,
What are the cardinal features of...,
What are the major features 15 89...
3
cards
Smith-Lemli-Opitz Syndrome
What is the inheritance of slo,
What are the most commonly observ...
2
cards
Stickler Syndrome
What is the inheritance pattern i...,
What are the clinical diagnostic ...
2
cards
McCune Albright Syndrome
What are clinical diagnostic feat...,
What is the inheritance pattern o...
2
cards
Sturge-Weber Syndrome
What are the clinically manifesta...
1
cards
Li Fraumeni Syndrome
What is the classical definition ...,
What are the clinical characteris...,
What gene is associated with lfs
4
cards
Diamond-Blackfan anemia
What are clinical features of dia...,
What is the inheritance pattern o...
2
cards
Shwachman-Diamond Syndrome
What are the clinical characteris...,
What is the inheritance pattern o...
2
cards
Peutz-Jegher's Syndrome
What is the inheritance pattern f...,
What is the incidence of pjs,
What are the main clinical featur...
3
cards
Dyskeratosis Congenita
What is the pattern of inheritanc...,
What are the clinical features of dc
2
cards
Fanconi anemia
What is the inheritance pattern f...,
What are the clinical features of...
2
cards
Alpha-1-antitrypsin Deficiency
What is the inheritance pattern f...,
What are the main clinical charac...
2
cards
Abetalopoproteinemia
What is the name of the syndrome,
What are the clinical features,
What are the biochemical findings
3
cards
Waardenburg Syndrome
What is the inheritance pattern f...,
What are the clinical characteris...
2
cards
Retts Syndrome
What is the genetic mutation for ...,
What are the major clinical chara...
2
cards
Silver-Russell Syndrome
What type of disorder is russell ...,
What are the clinical characteris...
2
cards
Wiskott-Aldrich Syndrome
What is the inheritance pattern f...,
What are the main clinical featur...,
What are the main laboratory find...
3
cards
Pompe Disease
What type of disorder is pompe di...,
What is the inheritance pattern f...,
What are the clinical features fo...
4
cards
Cystinosis
What is the inheritance pattern f...,
What is the cause of cystinosis,
What are the clinical characteris...
3
cards
Spinal Muscular Atrophy (SMA)
What is sma,
What is the inheritance pattern o...,
What are the clinical characteris...
3
cards
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sb_genetics (pediatrics royal college 2018)
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