name that inheritance pattern Flashcards
Prader-willi syndrome
Maternal imprinting (paternal gene is delted or mutated)
AngelMan syndrom
Paternal imprinting (maternal gene is deleted or mutated)
Mitchondrial MYOPATHIES
mitochondial inheritance - all offspring of affected females may show signs of disease
Autosomal dominent polycystic kidney disease
Autosomal dominant, duhhhh
FAP
Autosomal dominant
Familial hypercholesterolemia
LDL receptor issue
Autosomal dominant
Hereditary hemorrhagic telangiectasia
Autosomal dominant
Hereditary spherocytosis
Autosomal dominant
Huntingtons disease
Autosomal dominant
Marfan syndrome
Autosomal dominant
Multiple endocrine neoplasias MEN 1, 2A, 2B
Autosomal dominant
Neurofibromatosis type 1 (von reclinghausen)
Autosomal dominant
Neurifibromatosis type 2
Autosomal dominant
Tuberous sclerosis
Autosomal dominant
von Hippel-Lindau disease
Autosomal dominant
Albinism
autosomal recessive
ARPKD (infantile polycistic kidney disease)
autosomal recessive
CF
autosomal recessive
glycogen storage diseases
autosomal recessive
Karagener syndrome
autosomal recessive
mucopolysaccharidoses (except hunter syndrome)
autosomal recessive
phenylketonuria
autosomal recessive
sickle cell anemia
autosomal recessive
sphigolipidoses (except fabry disease)
autosomal recessive
Thalassemias
autosomal recessive
wilsons disease
autosomal recessive
bruton aggamaglobulinemia
x-linked recessive
BTK kindase immunodeficiency, B cells
wiskott-aldrich syndrome
x-linked recessive
thrombocytopenic purpura, eczema, recurrent infections
Fabry disease
x-linked recessive
G6PD deficiency
x-linked recessive
Ocular albinism
x-linked recessive
Lesch-Nyhan syndrome
x-linked recessive
Duchenne and Becker muscular dystrophy
x-linked recessive
Hunter syndrome
x-linked recessive
Hemophilia A and B
x-linked recessive
Ornithine transcarbamylase deficiency
x-linked recessive
Digeorge syndrome, velocardifacial syndrome
22q11 deletion
Down syndrome
trisomy 21
- 95% meiotic nondysjunction
- 4% robertsonian translocation
- 1% mosaicism (no maternal association, post-fertilization mitotic error)
Edwards syndrome
Trisomy 18
Patau syndrome
trisomy 13
cri-du-chat
-microdeletion of short arm of chromosome 5
46XX or XY 5p-
Williams syndrome
-congenital microdeletion of long arm of chromosome 7
Most metabolism enzyme defects
autosomal recessive
hypertriglyceridemia
autosomal dominant
hyper chylomicronemia (lipoprotein lipase deficiency)
autosomal recessive
