1
Q
What is the inheritance for MERRF?
A
Mitochondrial
2
Q
What are the clinical features of MERRF?
A
- Myoclonus –> seizures, ataxia, weakness –> dementia
- Hearing loss
- Normal early childhood development
- Short stature
- Optic atrophy
- Pigmentary renal changes
- Abnormal fat distribution
- Cardiomyopathy
- WPW syndrome
- Elevated lactate and pyruvate
Genetic Syndromes
flashcards
Decks in class (63)
# Cards
-
Fragile X Syndrome11
-
Prader-Willi Syndrome8
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Angelman Syndrome10
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Beckwith-Wiedemann Syndrome8
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DiGeorge Syndrome (22q11.2 Deletion Syndrome)7
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Turner Syndrome10
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Klinefelter Syndrome8
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Neurofibromatosis-1 (NF-1)8
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Tuberous Sclerosis8
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Achondroplasia7
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Marfan Syndrome9
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Wilson Disease7
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Long QTc Syndrome6
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Trisomy 212
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Trisomy 13 (Patau Syndrome)2
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Trisomy 18 (Edwards Syndrome)2
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Wolf-Hirschorn Syndrome2
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WAGR2
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Miller-Dieker Syndrome2
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Smith-Magenis Syndrome2
-
Williams Syndrome2
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Genetic Syndrome Images39
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Duchenne muscular dystrophy3
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Hemophilia A and B4
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Alport Syndrome3
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MERRF2
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MELAS2
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Leigh Syndrome2
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Treacher Collins Syndrome3
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Cornelia de Lange2
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CHARGE syndrome3
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Osteogenesis Imperfecta3
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Noonan Syndrome2
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Meckel-Gruber Syndrome2
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VACTERL1
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Goldenhar Syndrome4
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Denys Drash Syndrome2
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Sotos3
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Smith-Lemli-Opitz Syndrome2
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Stickler Syndrome2
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McCune Albright Syndrome2
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Sturge-Weber Syndrome1
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Li Fraumeni Syndrome4
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Diamond-Blackfan anemia2
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Shwachman-Diamond Syndrome2
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Peutz-Jegher's Syndrome3
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Dyskeratosis Congenita2
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Fanconi anemia2
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Alpha-1-antitrypsin Deficiency2
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Abetalopoproteinemia3
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Waardenburg Syndrome2
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Retts Syndrome2
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Silver-Russell Syndrome2
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Wiskott-Aldrich Syndrome3
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Pompe Disease4
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Cystinosis3
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Spinal Muscular Atrophy (SMA)3
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Downs Syndrome5
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Turner's Syndrome5
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Duchenne Muscular Dystrophy COPY8
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Dysmorphims7
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Other Genetic Syndromes39
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Neurofibromatosis and Tuberous Sclerosis7
