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Chapter 3: Genetics and Heredity, Gene
and Chromosomal Abnormalities
- Genetic diversity is caused by
the mutation in genes
- Mutations: Sudden change in molecular
structure of a gene
- Mutations: Sudden change in molecular
structure of a gene
- Gene Variations
- About 120,000 infants are born with a
birth defect due to the inheritance of a
single dominant or pair of recessive genes
- Williams Syndrome: Dominant genetic
disorder involving the deletion of a set of
genes
- Autosomal
dominant but most
occur are the
results of a
mutation
- Possess distinct set of facial
features along with curvatures of
the knees and hips
- Typically mildly to moderately intellectually
impaired
- When young they are extremely
sensitive to loud noises
- Strong ability to create
and imitate music
- Autosomal
dominant but most
occur are the
results of a
mutation
- Sickle Cell disease: Genetic blood disorder,
Abnormal blood cells carry insufficient oxygen
- Red blood cells are crescent shaped rather than round
- Blood cells survive for a shorter time and the
bone marrow has trouble replacing them
- Red blood cells are crescent shaped rather than round
- Phenylketonuria:
Recessive genetic
disorder in which an
amino acid fails to be
metabolized
- Intellectual impairment can be
seen by the age of 4
- metabolic products
accumulate in the
blood and the
nervous system
becomes deprived of
nutrients
- Intellectual impairment can be
seen by the age of 4
- Sex-Linked Syndromes
- They are seen more in men
than women because men only
receive one X chromosome and
will not have a second X to
possibly counter a recessive
trait
- Fragile X syndrome: Disorder
associated with a pinched region of
the X chromosome
- They are seen more in men
than women because men only
receive one X chromosome and
will not have a second X to
possibly counter a recessive
trait
- Williams Syndrome: Dominant genetic
disorder involving the deletion of a set of
genes
- About 120,000 infants are born with a
birth defect due to the inheritance of a
single dominant or pair of recessive genes
- Chromosome
Variations
- Whole sections of a chromosome are deleted,
duplicated, or relocated to another
chromosome or an extra chromosome is
transmitted to daughter cell
- Trisomy 21 (Down Syndrome): disorder resulting
from extra chromosomal material on pair
number 21
- Distinct facial features and language
and memory abilities are poor
- Mothers who have children older are
more likely to have down syndrome child
- Distinct facial features and language
and memory abilities are poor
- Sex Chromosome Syndromes
- An error can occur in meiosis and can change the
number of sex chromosomes someone gets
- Could be more vulnerable to
disruptive care giving patterns
- An error can occur in meiosis and can change the
number of sex chromosomes someone gets
- Trisomy 21 (Down Syndrome): disorder resulting
from extra chromosomal material on pair
number 21
- Whole sections of a chromosome are deleted,
duplicated, or relocated to another
chromosome or an extra chromosome is
transmitted to daughter cell
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