Genetics Flashcards
How does arrayCGH work?
detects genetic imbalance between control DNA and the patients, each dot corresponds to a specific genetic region- if there is more or less control DNA on any of the dots that indicates that there is less or more patient DNA than normal
How do you know if a genetic change causes disease?
it is in a gene that matches the phenotype; it has an effect on gene function; it is not listed as a polymorphism; it not an evolutionarily conserved bit of gene; it is de-novo in child or is present in other affected family members
What do you need to be wary of in deciding a mutation is causative if it is only found in affected not unaffected people?
penetrance
What are the three domains that intellectual disability impacts?
conceptual (language, reading writing, reasoning); social; practical (ADL)
What should be asked in the past medical history of a child?
pregnancy/birth history; feeding/weaning; medical problems; hospitalizations/illnesses
What are the first line investigations to consider?
CK; TFTs; U&Es; bone grouop; LFTs; FBC and film; aCGH; fragile X
What does aCGH stand for?
array comparative genomic hybridisation