Genetic And Congenital Alterations

Front 1

Define Autosomal Recessive disorders

Back 1

single gene mutations passed from a parent to the offspring regardless of the sex but can only occur in homozygous allele pairs (same alleles)

Front 2

Define Autosomal Dominant disorders

Back 2

are single gene mutations that are passed from parent to offspring regardless of sex. This will occur regardless the allele pair. It can be homo and hetero and still occur

Front 3

Types of Autosomal Dominant disorders

Back 3

Marfan Syndrome

Neurofibromatosis

Front 4

Types of Autosomal Recessive disorders

Back 4

PKU

Tay-sachs disease

Fragile X (sex linked disorder)

Down Syndrome

Turners

Klinefelters

Front 5

Marfan Syndrome

Back 5

degenerative disorder of connective tissue that results from a single gene mutation on chromosome 15, fibrillin -1 that leads to elastin and collagen defects.