chromatin and transcription Flashcards

1
Q

Prader-Willi Syndrome

A

Mild to moderate mental retardation
Hypotonia and poor feeding in infancy
Short stature, small hands and feet and small external genitalia
Compulsive overeating and massive obesity
Microdeletion of 15q11-q13
Deletion inherited from father (maternal allele of the gene is imprinted).

Prader==> deletion from Paternal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Angelman Syndrome

A

Severe mental retardation with absence of speech
Seizures
Jerky gait
Large mouth with a prominent tongue
Happy disposition and excessive laughter
Microdeletion of chromosome 15q11-q13
Deletion inherited from mother (paternal copy of the gene is imprinted).

angelMan=deletion from maternal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly