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'Patterns of Inheritance' Presentation (J. Boughman)
'Patterns of Inheritance' Presentation (J. Boughman)
Mendelian Non-Mendelian
• Autosomal Dominant • Imprinting
• Autosomal Recessive • Mitochondrial
• X-linked Recessive • Multifactorial
• X-linked Dominant • Sporadic
• Y-linked • Contiguous gene syndromes
How to evaluate a pedigree...
1) Transmission: Are there affected family members in every generation
(vertical pattern) or in only a single generation (horizontal pattern)?
Adapted from The Pedigree: A Basic Guide, by Jorgenson, Yoder & Shapiro
Autosomal Dominant
Non-Penetrance
Adapted from The Pedigree: A Basic Guide, by Jorgenson, Yoder & Shapiro
Autosomal Dominant
Sex-Limited/Influenced
3 2
3 2
Adapted from The Pedigree: A Basic Guide, by Jorgenson, Yoder & Shapiro
Autosomal Dominant
New Mutation
3 2 3
Adapted from The Pedigree: A Basic Guide, by Jorgenson, Yoder & Shapiro
Autosomal Dominant
dx 60
Late-onset trait
dx 50
dx 45
4 3 4
dx 45
3 2
• An individual who inherits the disease gene but does not develop
the condition until adulthood
• Examples: Huntington disease, most hereditary cancer syndromes
Adapted from The Pedigree: A Basic Guide, by Jorgenson, Yoder & Shapiro
Autosomal Dominant
Lisch nodules
Variable Expressivity café-au-lait spots
Neurofibromas
café-au-lait spots
café-au-lait spots
scoliosis
Lisch nodules
• Variability of severity of
Optic glioma
disorder among individuals learning disability
with same genotype neurofibromas
• Examples: Neurofibromatosis, café-au-lait spots
Treacher-Collins syndrome
Autosomal Recessive
Adapted from The Pedigree: A Basic Guide, by Jorgenson, Yoder & Shapiro
First cousins
Autosomal Recessive
Consanguinity
Adapted from The Pedigree: A Basic Guide, by Jorgenson, Yoder & Shapiro
X-linked Recessive
2 3 4
2 3
2
• Males are more often affected than females
• Affected males pass the gene to all of their daughters and none of
their sons (NO male-to-male transmission)
• Daughters of carrier females have a 50% chance to be unaffected
carriers. Sons of carrier females have 50% chance to be affected.
• Affected males in the family are related to each other through carrier
females (“Knight’s move”)
X-linked Recessive
Other characteristics
2 3 4
2 3
2 2
4 4
Adapted from The Pedigree: A Basic Guide, by Jorgenson, Yoder & Shapiro