Modes of Inheritance Flashcards
Prader-Willi
Maternal imprinting (paternal deletion)
Angelman Syndrome
Paternal imprinting (maternal deletion)
ADPKD
Autosomal Dominant
ARPKD
Autosomal Recessive
Menkes Disease
X-linked Recessive (impaired copper absorption- brittle “kinky” hair, growth retardation, and hypotonia)
Lesch-Nyan Syndrome
X-Linked Recessive
Familial Adenomatous Polyposis
Autosomal Dominant
Familial hypercholesterolemia
Autosomal Dominant
Hereditary hemorrhagic telangiectasia
Autosomal Dominant
Hereditary Spherocytosis
Autosomal Dominant
Huntington Disease
Autosomal Dominant, anticipation, CAG repeat
Li-Fraumeni Syndrome
Autosomal Dominant
Albinism
Autosomal Recessive
Cystic Fibrosis
Autosomal Recessive
Glycogen Storage Diseases
Autosomal Recessive
Hemochromatosis
Autosomal Recessive
Kartagener Syndrome
Autosomal Recessive
Mucopolysaccharidoses (except Hunter)
Autosomal Recessive
PKU
Autosomal Recessive
Sickle Cell Anemia
Autosomal Recessive
Sphingolipidoses (except Fabry)
Autosomal Recessive
Thalassemias
Autosomal Recessive
Wilson Disease
Autosomal Recessive
Marfan Syndrome
Autosomal Dominant
MEN Syndromes
Autosomal Dominant
Neurofibromatosis type I (von Recklinghausen Disease)
Autosomal Dominant
Neurofibromatosis type II
Autosomal Dominant
Tuberous Sclerosis
Autosomal Dominant
von Hippel-Lindau Disease
Autosomal Dominant
Bruton’s agammaglobinemia
X-Linked Recessive
Wiskott-Aldrich Syndrome
X-Linked Recessive
Fabry Disease
X-Linked Recessive
G6PD Deficiency
X-Linked Recessive
Ocular Albinism
X-Linked Recessive
Duchenne Muscular Dystrophy
X-Linked Recessive
Becker Muscular Dystrophy
X-Linked Recessive
Hunter Syndrome
X-Linked Recessive
Hemophilia A
X-Linked Recessive
Hemophilia B (Christmas Disease)
X-Linked Recessive
OTC Deficiency
X-Linked Recessive
Myotonic Type I Muscular Dystrophy
Autosomal Dominant (CTG repeat)
Fragile X Syndrome
X-linked Dominant, (CGG repeat)
Down Syndrome
Trisomy 21- meiotic disjunction (95% of cases)
Edwards Syndrome
Trisomy 18- meiotic disjunction
Patau Syndrome
Trisomy 13 meiotic disjunction or Robertsonian translocation
