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Chapter 3: Genetics and Heredity, Gene and Chromosomal Abnormalities
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Mind Map on Chapter 3: Genetics and Heredity, Gene and Chromosomal Abnormalities, created by krupa8711 on 31/01/2016.
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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
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
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
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
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
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
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
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