Clinical Genetics Flashcards by Max Kam

Q

Mendelian inheritance
Types

A

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Q

Family pedegree notation

A

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Q

Autosomal dominant

Define
Chance of disease
Factor of expression

A

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Q

Autosomal recessive

Definition
Chance of disease
Factor of expression

A

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Q

X-link recessive/ Dominant, Y inheritancce

Definition
Chance of disease

A

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Q

Trinucleotide repeats

Definition
Examples

A

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Q

Fragile X

Pathogenesis
Clinical features
Dx

A

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Q

Mitochondrial inheritance

Pathogenesis
Presentation
Examples

A

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Q

Imprinting gene/ uniparental gene

Pathogenesis

A

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Q

Prader-Willi syndrome

Cause
Clinical features
Tx

A

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Q

Angelman syndrome

Genetic cause
Clinical features

A

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Q

Russel silver syndrome

Genetic cause
Clinical presentation

A

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Q

Multifactorial inheritance

Genetic mechanism

A

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Q

Types of genetic tests

A

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Q

Genetic counselling

Function

A

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Q

Down syndrome

Genetic mechanisms

A

Q

DS

Clinical features

A

Q

Down Syndrome

Mx

A

Q

Edward syndrome

Genetic cause
Clinical presentation

A

Q

Patau syndrome

Genetic cause
Clinical presentation

A

Q

Turner syndrome

Genetic cause
Clinical features

A

Q

Turner syndrome

Mx

A

Q

Klinefelter syndrome

Genetic cause
Clinical features

A

Q

Chromosomal structural disorders

Types
Presentation

A

Q

Noonan syndrome

Genetic cause
Clinical presentation

A

Q

Overgrowth syndromes

Hx
PE

A

Q

Beckwith-Wiedemann syndrome

Genetic cause
Clinical presentation

A

Q

Sotos syndrome

Genetic cause
Clinical presentation

A

Q

Segmental overgrowth syndrome

Examples

A

Q

Williams syndrome

Genetic cause
Clinical features

A

Q

Cri du Chat syndrome

Genetic cause
Clinical presentation

A

Q

DiGeorge syndrome

Genetic cause
Clinical presentation

A