Features of autism can be a component of many genetic and chromosomal disorders. Autism also occursas an idiopathic disorder. Genetic factors are believed to contribute, but specific genes responsible areunknown.Frequency:Various estimates put frequency between 1/600-1/2,500Clinical features:Autism is...
Autosomal recessive disorders tay-sachs, PKU, hemochromatosis, CF X-linked Dominant disorder: chrondrodysplasia punctata chrondrodysplasia punctata mostly seen in boys (x-linked dominant disorder) appears in x-rays as spots (stipling) in bones and carttilage-usually resolves in early childhood ...
Quizlet的學習工具能幫助你學習任何科目。快透過單詞卡、練習測試和專家撰寫的解答來提升你的成績,並達成你的目標吧。
Can be caused by inherited condition that runs in family- hypercholesterolaemia. In UK, approx 1 in 600 have this condition. Caused by gene alteration cause by parent- people with this type are born with the condition & can lead to early heart problems unless treated. 50% chance that a ...
-most in skeletal disorders 9/11 1-2 amorphic -no functional gene product -gene may no longer be properly transcribed/translated --> no proteins made -haploinsufficiency hypomorphic -reduce function of protein -protein limited function or limited amount ...