Genetics Flashcards
0
Q
Name the only X dominant diseases
A
Alport syndrome
Vit D resistant Rickets
1
Q
Enzyme deficiency in Tay Sach’s
A
Hexosaminidase £ subunit
2
Q
Niemann Pick
A
Type A & B - spingonyelinase
A-CNS involvement & organomegaly
B-organomegaly
Type C-cholesterol pathology
3
Q
Zebra bodies
A
Niemann Pick
Mucoplysacchardoses
4
Q
Ochronosis (blue black pigmentation of ear nose cgeek)
Articular pgiment deposits
Blackening of urine
A
Alkaotonuria
homogentisic oxidase def
5
Q
Patau Syndrome
A
Trisomy 13 '4 Ps' Patau Polydactyly cleft Palate holoProsebcephaly
6
Q
Di George Syndrome
velocardifascial syndrome
A
‘CATCH 22’
Cardiac defects Abnormal fascies Thymic aplasia Cleft palate Hypocalcemia 22.q11.2 deletion
