allosomal Flashcards
disorder that is seen more commonly in females (XX)
X linked dominant disorders
What chromosome is affected in x linked dominant
1
In X linked dominant, Hemizygous males are severely affected.
True Or FALSE
True
In X linked Dominant, Do not show father to son transmission
TRUE Or FALSE
TRUE
X linked Dominant how many percent will the boys and girls be affected?
What parent is affected?
Two girls will have the disease
Two boys will not have the disease
Father
If mother is affected how many percent of boy and girl will be affected
one boy and girl will have the disease
One boy and girl wil not have the disease
What type of Allosomal disorder is Danon disease?
What is the gene defect?
elevated level of Creatine kinase
Lamp 2 gene
Wolf parkinson white syndrome
Lamp 2 gene
Incontinent pigmenti
IKBKG gene
What are the four stages of incontinent pigmenti
Stage 1 - blisters
Stage 2 - warts
Stage 3 - marble cake like
Stage 4 - scarred areas
Stage 1- vesicular
Stage 2 verrucous
Stage 3 - pigmented
Stage 4 - scarred
Rett Syndrome
MecP2 protein
genetic defect on X chromosome
X linked recessive
Females with one copy of the mutated genes are carriers
X linked recessive
Is X linked Recessive always expressed in males?
TRUE Or FALSe
False
In X linked Recessive affected male they do not transmit x chromosomes to their sons
TRue
