Autosomal dominant inheritance Flashcards
1
Q
What is the inheritance of achondroplasia?
A
Autosomal dominant (heterozygous)
2
Q
What are the clinical features of achondroplasia?
A
Dwarfism: shortened long bones
3
Q
Which gene is affected in achondroplasia?
A
FGFR3 - mutation leading it to be constantly active and inhibiting long bone growth
4
Q
Prevalence of PKD
A
1 in 400 to 1 in 1000 live births
5
Q
What is the most common inherited cause of renal failiure?
A
Autosomal dominant kidney disease
6
Q
What are the clinical features of adult PKD?
A
Hypertension Abdominal fullness Haematuria Recurrent urinary tract infections Renal failiure
7
Q
What kind of inheritance is vitamin D resistant rickets?
A
X linked dominant
8
Q
What kind of inheritance is Marfans syndrome?
A
Autosomal dominant
9
Q
What kind of inheritance in achondroplasia?
A
Autosomal dominant
