Notes in D)Clinical Genetics

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Status	Last Update	Fields
Published	08/12/2024	Locus
Published	08/12/2024	{{c1::Genotype}} (genetic) vs. {{c1::phenotype}} (observable, either dominant or recessive)
Published	08/12/2024	Allele
Published	08/12/2024	{{c1::Homozygote}} (2 identical alleles at locus) vs. {{c1::heterozygote}} (2 different alleles at locus) vs. {{c1::hemizygote}}&n…
Published	08/12/2024	Genetic heterogeneity
Published	08/12/2024	allelic heterogeneity
Published	08/12/2024	locus/nonallelic heterogeneity
Published	08/12/2024	{{c1::Variable expression}}: same genotype → different phenotypes, e.g. neurofibromatosis
Published	08/12/2024	{{c1::Pleiotropy:}} multiple effects by one gene, e.g. Marfan → multiple organ systems
Published	08/12/2024	{{c1::Reduced penetrance}}: proportion (below) reduced if people with the genotype/variant do not have the disorder, esp in autosomal dominant…
Published	08/12/2024	{{c1::Penetrance}} = # individuals with genotype with disorder / total # individuals with genotype
Published	08/12/2024	{{c1::Consanguinity:}} related couples who are second cousins or closer
Published	08/12/2024	{{c1::Single Nucleotide Polymorphism}} (SNP)
Published	08/12/2024	{{c1::Copy number variant}} (CNV): part of genome is duplicated, opposite of a deletion
Published	08/12/2024	{{c1::Pedigree:}} chart that diagrams the inheritance of a trait or health condition through generations of a family
Published	08/12/2024	{{c1:: Autosomal dominant}}: traits expressed in heterozygote or homozygote
Published	08/12/2024	{{c1::Autosomal recessive}}: less common, only expressed in homozygote
Published	08/12/2024	{{c1::Lyon hypothesis}}: in female somatic cells, only one X is active, the other X is inactivated/condensed early in embryonic development called a B…
Published	08/12/2024	{{c1::X-linked recessive}}, e.g. hemophilia A and Duchenne muscular dystrophy
Published	08/12/2024	X-linked dominant
Published	08/12/2024	Understand the mechanisms of pedigree formation, including limitations in the current standard process
Status	Last Update	Fields