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Patterns of inheritance 

Patterns of inheritance
Chapter:
Patterns of inheritance
Author(s):

Guy Bradley-Smith

, Sally Hope

, Helen v. Firth

, and Jane A. Hurst

DOI:
10.1093/med/9780199545360.003.02
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date: 20 October 2020

Autosomal dominant (AD) inheritance 36

Autosomal recessive (AR) inheritance 40

Mitochondrial inheritance 44

Mosaicism 46

Multifactorial inheritance 48

Taking a family history 52

X-linked (XL) inheritance 54

AD disorders are encoded on the autosomes (i.e. not the X or Y chromosome) and the disorder manifests in heterozygotes, i.e. when a single copy of the mutant allele is present. AD disorders are characterized by inter- and intrafamilial variability. Factors influencing this variability may include modifier genes (the expression of which can influence a phenotype resulting from a mutation at ...

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