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Flashcards in Duplications Deck (17)
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1

Charcot-Marie-Tooth Disease

46, XX, dup(17p11.2) - duplication of gene for peripheral myelin protein-22 (contiguous gene syndromes/ "genetic" disorders)

2

Symptoms are weakness in legs, lower extremity muscle atrophy, foot deformity, and some loss of sensation in feet

Charcot-Marie-Tooth Disease

3

Charcot-Marie-Tooth Disease - Symptoms

Symptoms are weakness in legs, lower extremity muscle atrophy, foot deformity, and some loss of sensation in feet

4

46, XX, dup(17p11.2)

Charcot-Marie-Tooth Disease - duplication of gene for peripheral myelin protein-22

5

Interstitial duplication on chr 15 - Symptoms

autism/ hypotonia/seizures/ID

6

Huntington Disease

Trinucleotide repeat disorder (CAG), Chr 4p16.3 expansion of the CAG can cause altered structure of protein

7

Chr 4p16.3 expansion of the CAG

Huntington Disease

8

neuronal degeneration onset at 35-44 yo death ~15 yrs after onset, jerking movements, halucinations, father died young, irritability, paranoia and later on confusion and memory loss.

Huntington Disease

9

Huntington Disease - Symptoms

neuronal degeneration onset at 35-44 yo death ~15 yrs after onset, jerking movements, halucinations, father died young, irritability, paranoia and later on confusion and memory loss.

10

Myotonic Dystrophy Type 1

Trinucleotide repeat disorder (CTG) located in 3' UTR of DMPK gene

11

Trinucleotide repeat disorder (CTG) located in 3' UTR of DMPK gene

Myotonic Dystrophy Type 1

12

muscular dystrophy, progressive muscle wasting and weakness, myotonia, cataracts

Myotonic Dystrophy Type 1

13

Myotonic Dystrophy Type 1 - Symptoms

muscular dystrophy, progressive muscle wasting and weakness, myotonia, cataracts

14

Beckwith-Wiedemann syndrome

dup(11p15.5) (paternal)

15

dup(11p15.5) (paternal)

Beckwith-Wiedemann syndrome

16

Beckwith-Wiedemann syndrome - Symptoms

overgrowth, omphalocele, predisposition to Wilms, other tumors

17

overgrowth, omphalocele, predisposition to Wilms, other tumors

Beckwith-Wiedemann syndrome - Symptoms