Presentation on theme: "Genetic Disorders Autosomal and Sex-linked. HOW DO WE GET GENETIC DISORDERS? Nondisjunction – failure of chromosomes to separate during cell division."— Presentation transcript:
Genetic Disorders Autosomal and Sex-linked
HOW DO WE GET GENETIC DISORDERS? Nondisjunction – failure of chromosomes to separate during cell division. Results in too many or too few chromosomes.
KARYOTYPE - Chart that shows the size, number, and shape of all chromosomes in an organism.
Patau syndrome, trisomy 13 1:5000 live births. Lifespan – about a few months Complications include: congenital heart disease, lack of breathing, deafness, feeding problems, heart failure, seizures, vision problems.
Edwards syndrome, trisomy 18 Lifespan – Most pass in first month, about 10% live past first year. NOT inherited. Complications include: low birth weight, small head, heart defects, organ abnormalities, fists with overlapping fingers.
Down’s syndrome, trisomy 21 Affects 1:700 children Lifespan – Usually to adults, but shorter lifespan overall. Complications include: characteristic facial features, short stature, heart defects respiratory disease, Alzheimer’s and leukemia, often sterile, mental retardation. More prevalent with older mothers. Can be due to nondisjunction of father’s chromosome 21.
Cri-du-chat, deletion in 5 Abnormal rate of growth of the larynx (cry of the cat). More common in females by 3:1 ratio. Lifespan – generally normal Complications include: microcephaly (small head), slow development, poor muscle tone, congenital heart defect, mental retardation.
Jacobs, XYY All male. Affected – 1:1000 males have XYY. Complications include: some taller, risk of learning disabilities, delayed language skills, behavioral problems. Most males able to conceive children!
Klinefelter’s, XXY Affects 1:750 males Lifespan – normal. Underdiagnosed. Complications include: low testosterone, less body hair/less muscular as teenager, often taller. More likely to get breast cancer, autoimmune disorders, and osteoporosis.
Triple X, XXX The one to get! Affects 1:1000 females Lifespan – Normal No complications! Fertile and healthy. Cannot tell difference between Triple X and normal female.
Philadelphia translocation, 9 to 22 translocation Affects - 1-2:10,000 newborns Specific chromosomal abnormality that is associated with chronic myelogenous leukemia (CML). 95% of people with CML have this abnormality.