Genetics and Genetics Counselling Flashcards
• Is a study of the way such disorders occurs.
• the scientific study of inherited variation.
• a science that deals with all characteristics of
genes.
Genetics
Healthy People 2030 Goals
• Reduce anxiety and depression in
the family caregivers of people with disabilities
• Increase proportion of infants with
hearing loss who get intervention services by 6 months
• Increase the proportion of children
with developmental delays
• Reduce the proportion of people
with intellectual and developmental disabilities
It is the study of chromosomes by light microscopy and the method by which chromosomal aberrations are identified
Cytogenetics
These are the basic units of heredity that determine both the physical and cognitive characteristics of people. It is composed of segments of DNA, they are woven into strands in the nucleus
Genes
These are threadlike structures of nucleic acids and protein found in the nucleus of most living cells, carrying genetic information in the form of genes.
Chromosomes
• In humans, each cell, except for the sperm and ovum, contains _____ chromosomes (_____pair of autosomes and _____pair of sex chromosomes
46 chromosomes
22 pairs of autosomes
1pair os sex chromosomes
These are two like genes
Alleles
XX
Female
Xy
Male
It is a progressive neurologic disorder characterized by loss of motor control and intellectual deterioration, symptoms usually manifest at 35-45 y/o.
Huntington disease
Examples include cystic fibrosis, albinism, Tay-Sachs disease, galactosemia, phenylketonuria, Rh Incompatibility.
Autosomal RECESSIVE Inheritance
Provide preventive measures and early treatment option. To identify individuals who have higher risk of disorder and carry a specific gene for a disorder.
Genetic Screening
Disease detected by Carrier Screening
Cystic fibrosis
Fragile C syndrome
Sickle cell disease
Tay-sachs disease
Disease detected by Prenatal screening
Down syndrome
Edwards syndrome
Brain or neural tube defects such as Spina Bifida and Anencephaly
Also known as Quadruple Marker test, Quad screen, Maternal Serum Screen, AFP plus, AFP maternal, MSAFP, and 4-marker screen, is one of the most common prenatal screening that measures levels of four substances in a woman’s blood.
Quadruple Screening test
A protein produced by the growing baby
Alpha fetoprotein (AFP)
A protein produced by the growing baby
Alpha fetoprotein (AFP
A hormone produced in the placenta
Human chorionic gonadotropin (hCG)
A form of the hormone estrogen produced in the fetus and the placenta
Unconjugated Estriol (uE3)
another hormone released by the placenta
Inhibin A
test typically performed between the 15th and 20th weeks of the pregnancy i.e. during the second trimester. It evaluates the chances of carrying a baby who may have any of the following disorders:
•Down syndrome (Trisomy 21): A chromosomal disorder that causes lifelong intellectual disability and developmental delays. Down syndrome symptoms can include short, stocky physical size, with a short neck, flattened facial features, small ears, hands, and feet, delays in speech and language development, attention problems.
•Trisomy 18: A chromosomal disorder that is often fatal and causes severe developmental delays and abnormalities in the structure of the body.
•Spina bifida: A birth defect that occurs when a portion of the neural tube fails to develop or close properly, causing defects in the spinal cord and in the bones of the spine.
•Abdominal wall defects: In these birth defects, the baby’s intestines or other abdominal organs stick through the belly button
Quadruple Screening Test
A chromosomal disorder that causes lifelong intellectual disability and developmental delays. Down syndrome symptoms can include short, stocky physical size, with a short neck, flattened facial features, small ears, hands, and feet, delays in speech and language development, attention problems
Down syndrome (Trisomy 21)
A chromosomal disorder that is often fatal and causes severe developmental delays and abnormalities in the structure of the body
Trisomy 18
A birth defect that occurs when a portion of the neural tube fails to develop or close properly, causing defects in the spinal cord and in the bones of the spine
Spina bifida
