Duplications Flashcards
Charcot-Marie-Tooth Disease
46, XX, dup(17p11.2) - duplication of gene for peripheral myelin protein-22 (contiguous gene syndromes/ “genetic” disorders)
Symptoms are weakness in legs, lower extremity muscle atrophy, foot deformity, and some loss of sensation in feet
Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease - Symptoms
Symptoms are weakness in legs, lower extremity muscle atrophy, foot deformity, and some loss of sensation in feet
46, XX, dup(17p11.2)
Charcot-Marie-Tooth Disease - duplication of gene for peripheral myelin protein-22
Interstitial duplication on chr 15 - Symptoms
autism/ hypotonia/seizures/ID
Huntington Disease
Trinucleotide repeat disorder (CAG), Chr 4p16.3 expansion of the CAG can cause altered structure of protein
Chr 4p16.3 expansion of the CAG
Huntington Disease
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
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.
Myotonic Dystrophy Type 1
Trinucleotide repeat disorder (CTG) located in 3’ UTR of DMPK gene
Trinucleotide repeat disorder (CTG) located in 3’ UTR of DMPK gene
Myotonic Dystrophy Type 1
muscular dystrophy, progressive muscle wasting and weakness, myotonia, cataracts
Myotonic Dystrophy Type 1
Myotonic Dystrophy Type 1 - Symptoms
muscular dystrophy, progressive muscle wasting and weakness, myotonia, cataracts
Beckwith-Wiedemann syndrome
dup(11p15.5) (paternal)
dup(11p15.5) (paternal)
Beckwith-Wiedemann syndrome
