Notes in Pedigree Practice Problems

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Published	09/03/2024	what mode of inheritance?{{c1::autosomal dominant:- male to male transmission- seen in every generation (no skipping)- affected individuals have at le…
Published	09/03/2024	mode of inheritance?{{c1::mitochondrial- all children of affected mothers are affected- NO paternal transmission}}
Published	09/03/2024	mode of inheritance?{{c1::X-linked recessive:- no male to male transmission- mostly/only males are affected}}
Published	09/03/2024	mode of inheritance?**note the consanguinity (parents are related) are the darker lines{{c1::autosomal recessive}}
Published	09/03/2024	mode of inheritance?{{c1::X-linked dominant- all daughters of affected males are affected- no male to male transmission- females are mostly affected}}
Published	09/03/2024	mode of inheritance?{{c1::autosomal recessive (most likely):- skipping generations }}
Published	09/03/2024	mode of inheritance and determine risk for person 1 and 2:{{c1::- autosomal dominant (male to male transmission, every generation)- person 1: 50%- per…
Published	09/03/2024	mode of inheritance?risk of individual III-3 and III-6 to be affected if I-1 and I-2 are carriers?{{c1::X-linked recessive (no male to male, only male…
Published	09/03/2024	what are the chances that the individual marked in red is affected?{{c1::mitochondrial (male does not have any affected kids, ALL children of affected…
Published	09/03/2024	what are the chances that the offspring of III-6 and III-7 will be affected:{{c1::autosomal dominant (male to male, every generation):- III-6: 50%,- I…
Published	09/03/2024	{{c1::II-6: 100% (parent of an affected child)I-3: 50% (grandparent of an affected child - it could be either grandpa or grandma we don't know)III-12:…
Published	09/03/2024	what are the chances that the individual marked in red is a carrier for an autosomal recessive disease:{{c1::25%- father has a 50% chance of being una…
Published	09/03/2024	{{c1::Marfan syndrome}} is an {{c2::autosomal dominant}} disease of the FBN1 gene. It is a disorder of the {{c3::connective tissue}} where the aortic …
Published	09/03/2024	Describe human chromosomes:{{c1::Humans have 46 chromosomes22 paired and 1 paired sex chromosome (XY = male, XX = female)23 maternal, 23 paternal*ther…
Published	09/03/2024	{{c1::Gene}}: functional units of genetic information ~22k
Published	09/03/2024	{{c1::allele}}: one of two alternative forms of a gene
Published	09/03/2024	{{c1::variant}}: a change in a gene (benign, pathogenic, unknown significance)
Published	09/03/2024	{{c1::genotype}}: alleles/variants an individual has in a gene or at a particular location
Published	09/03/2024	{{c1::phenotype}}: a set of observable characteristics in an individual, the expression of genotype-environment interaction
Published	09/03/2024	5 modes of inheritance:{{c1::}}
Published	09/03/2024	autosomal recessive; describe quantity, M/F ratio, parents, carrier likelihood, etc.){{c1::- one or a few individuals affected (looks sparse on pedigr…
Published	09/03/2024	inheritance pattern?{{c1::autosomal recessive}}
Published	09/03/2024	autosomal dominant; describe generations, M/F ratio, male to male, children, unaffected individuals, etc.){{c1::- multiple generations are affected- M…
Published	09/03/2024	inheritance pattern?{{c1::autosomal dominant}}
Published	09/03/2024	X-linked recessive; describe male to male, M/F ratio, parent to offspring %, carriers, etc.){{c1::- NO male to male transmission- Males are much more …
Published	09/03/2024	inheritance pattern?{{c1::X-linked recessive}}
Published	09/03/2024	X-linked dominant; describe male to male, M/F ration, offspring %, etc.{{c1::- no male to male transmission- affected males --> ALL daughters are a…
Published	09/03/2024	inheritance pattern?{{c1::X-linked dominant}}
Published	09/03/2024	mitochondrial:{{c1::- inherited only from the mother- females pass it on to ALL of their offspring- affecred males do not pass it on to any children}}
Published	09/03/2024	inheritance pattern?{{c1::mitochondrial}}
Published	09/03/2024	incomplete penetrance is a special case when {{c1::not everyone who has a disease-causing variant will develop a disease}}
Published	09/03/2024	{{c1::Variable expressivity}} is the degree to which a genotype is phenotypically expressed in individuals. Some people are more severely affected tha…
Published	09/03/2024	{{c1::Pleiotropy}} is when the same genetic change can cause very different phenotypes
Published	09/03/2024	{{c1::Fragile X/FMR 1-related disorders}} are X-linked can caused by an extra trinucleotide repeat in the FMR1 gene. The associated symptoms are {{c2:…
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