Review Note

Last Update: 08/12/2024 01:09 AM

Current Deck: Foundations shared U of A updated::Foundations::D)Clinical Genetics

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{{c1::Autosomal recessive}}: less common, only expressed in homozygote

Extra

Appears only in sibship (same two parents) of proband (starting point of genetic study)
- Recurrence for siblings of affected individuals is 1 in 4. If sibling is unaffected, sibling has 2 in 3 chance of being a heterozygous carrier
- Parents sometimes consanguineous, esp in rare recessive disorders
- Parents of affected person are asymptomatic carriers of mutant allele
- Male/female equally likely

ankihub_id

91c74a8e-dbcb-41e6-a42c-25d6621b3a5f

Current Tags:

AnkiHub_Subdeck::Foundations_shared_U_of_A::Foundations::D)Clinical_Genetics AnkiHub_Subdeck::Foundations_shared_U_of_A_updated::Foundations::D)Clinical_Genetics

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