GENETIC DISORDERS 3.0 Flashcards
Genetic Disorders : IV. Associated with defects in proteins that regulate cell growth (8 cards)
1
Q
Other Name for Neurofibromatosis
A
Von Recklinghausen’s Disease
2
Q
Other Name for Trisomy 21
A
Down Syndrome
3
Q
Other name for Trisomy 13
A
Klaus Syndrome
4
Q
Other Name for Trisomy 18
A
Edwards Syndrome
5
Q
What are the types of Neurofibromatosis
A
a. Neurofibromatosis 1
b, Neurofibromatosis 2
c. Schwannomatosis
6
Q
What part of chromosome 5 is deleted in Cri du chat
A
“p” arm
7
Q
History : Trisomy 21
A
Langdon Down (1996)
8
Q
History : Trisomy 13
A
Klaus Patau (1990), he and his associates observed an infant with a massive neurological mal
