inheritance for some diseases Flashcards
haemochromatosis
AR
huntingtons
AD
gilberts
AR
FAP
AD
HNPCC/lynch
AD
gardners
AD
alpha 1 antitrypsin deficiecny
AR
wilsons
AR
polycystic kidneys
AD
otosclerosis
AD
hereditary haemorrhagic telangiectasia
AD
androgen insensitivity syndrome
x linked recessive
kallman
XLR
karyotype of kleinefelters
47 XXY male
karyotype of turners
45 X
bilateral adrenal hyperplasia
AR
MODY
AD
familial hypocalciuric hypocalcaemia
AD
sickle cell anaemia
AR
Acute intermittent porphyria (AIP)
AD
G6PD
x linked recessive
hereditary spherocytosis
autosomal dominant
Heredity hemorrhagic telangiectasia (HHT)
AD
von willebrand
AD
sideroblastic anaemia
XLR
genotype of a+ thalassaemia trait
1/4 alpha chains deleted
genotype of a0 thalassaemia trait
2/4 alpha chains deleted
genotype of a thalassaemia (HbH disease)
3/4 alpha chains deleted
genotype of Hb Barts Hydrops foetalis
all alpha chains deleted –> IUD
fanconi anaemia
AR
marfans
AD
achondroplasia
AD but 80% sporadic
osteogenesis imperfecta (brittle bone)
AD
ehlers danlos
AD