Inheritance Flashcards by Carlos Garcia | Brainscape

Q

Achondroplasia

A

AD

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Q

Albinism

A

AR

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Q

Infant Polycystic Kidney Dz

A

AR

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Q

Cystic Fibrosis

A

AR

CFTR Gene on Chromo 7

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Q

Glycogen Storage Dzs

A

AR

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Q

Neurofibromatosis Type 1

A

AD

NF1 gene on Chromo 17

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Q

Hemochromatosis

A

AR

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Q

Kartagener

A

AR

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Q

Mucopolysaccharidoses (except Hunter)

A

AR

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Q

PKU

A

AR

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Q

Sickle cell

A

AR

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Q

Sphingolipidoses (except Fabry)

A

AR

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Q

Thalassemias

A

AR

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Q

Neurofibromatosis Type 2

A

AD

NF2 gene on Chromo 22

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Q

Wilson Dz

A

AR

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Q

Bruton Agammaglobulinemia

A

XLR

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Q

Tuberous Sclerosis

A

AD

Q

von Hippel-Lindau

A

AD

VHL Gene on Chromo 3

Q

Wiskott-Aldrich

A

XLR

Q

Fabry

A

XLR

Q

G6PD Deficiency

A

XLR

Q

Ocular Albanism

A

XLR

Q

Lesch-Nyhan

A

XLR

Q

Duchenne

A

XLR

Q

Becker

A

XLR

Q

Hunter Syndrome

A

XLR

Q

Hemophilia

A

XLR

Q

Ornithine Transcarbamylase Deficiency

A

XLR

Q

Trinucleotide repeat of Fragile X

A

CGG

Q

Trinucleotide repeat of Freidrich Ataxia

A

GAA

Q

Trinucleotide repeat of Huntington

A

CAG

Q

Trinucleotide repeat of Myotonic Dystrophy

A

CTG

Q

Adult Polycystic Kidney Dz

A

AD

PKD1 (Chromo 16) 85%
PKD2 (Chromo 4)

Q

FAP

A

AD

APC Gene on Chromo 5

Q

Familial Hypercholesterolemia

A

AD

LDL receptor gene mutation

Q

Hereditary Hemorrhagic Telangiectasia

A

AD

Q

Hereditary Spherocytosis

A

AD

Spectrin or Ankyrin defect

Q

Huntington

A

AD

CAG repeats on Chromo 4

Q

Marfan

A

AD

Fibrillin-1 Gene

Q

MEN 1

A

AD

Q

MEN 2A/2B

A

AD

Ret Gene