Genetic Disorders disorders that can be passed from one generation to the next
Genetics study of the way such disorders occur
Cytogenetics study of chromosomes by light microscopy and the method by which chromosomal aberrations are identified
Genes basic units of heredity that determine both the...
NCMA 219 - Week 1 - Genetic
Assessment and Counselling Q&A
Genetic Disorders ✅disorders that can be passed from one generation to the next
Genetics ✅study of the way such disorders occur
Cytogenetics ✅study of chromosomes by light microscopy and the method by which
chromosomal aberrations are identified
Genes ✅basic units of heredity that determine both the physical and cognitive
characteristics of people
Deoxyribonucleic Acid ✅DNA meaning
46 Chromosomes ✅In humans, each cell, contains how many chromosomes
Alleles ✅two genes
Female ✅XX
Male ✅XY
Phenotype ✅refers to outward appearance or the expression of genes
Genotype ✅refers to actual gene composition
Genome ✅is the complete set of genes (50,000 - 100,000)
46XX/46XY ✅Normal Genome
Homozygous ✅a person who has 2 like genes
Heterozygous ✅if the genes differ
Autosomal Dominant DIsorders ✅either a person has 2 unhealthy genes or with the
gene causing the disease stronger than the corresponding healthy recessive gene for
the same trait
Vertical Transmission ✅one of the parents of a child with the disorder also will have
the disorder
, Autosomal Recessive Inheritance ✅these inheritance tend to be biochemical or
enzymatic
Autosomal Recessive Inheritance ✅such disease do not occur unless 2 genes for the
disease are present
Horizontal Transmission Pattern ✅the family history for the disorder is negative-that is
no one can identify anyone else who had it
X-Linked Dominant Inheritance ✅transmitted only by, the female sex chromosomes
X-Linked Dominant Inhertance ✅All female children of affected men are affected
all male children are unaffected
All children of homozygous affected women are affected
50% of the children of heterozygous affected women are affected
X-Linked Recessive Inheritance ✅non-dominant, transmitted only by female
chromosomes
X-Linked Recessive Inheritance ✅Disease:
Hemophilia A
Christmas Disease
Color blindness
Duchenne muscular dystrophy
fragile X syndrome
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