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
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