Chapter 14 Flashcards
(22 cards)
Autosomal
Referring to chromosomes that are not sex chromosomes (chromosomes 1–22 in humans).
Carrier
An individual who carries one copy of a recessive allele for a trait but does not express the trait themselves.
Mutations
Changes in the DNA sequence that can lead to different traits or diseases.
Insertion
A type of mutation where extra base pairs are added into the DNA sequence.
Duplication
A type of mutation where a section of DNA is copied and inserted into the genome multiple times.
Deletion
A mutation where a segment of DNA is lost or deleted from the chromosome.
Inversion
A mutation where a segment of DNA is flipped or reversed within a chromosome.
Translocation
A mutation where a piece of one chromosome breaks off and attaches to another chromosome.
Speciation
The process by which new and distinct species are formed.
Polyploidy
A condition where an organism has more than two complete sets of chromosomes, often leading to new species.
Nondisjunction
The failure of chromosomes to separate properly during cell division, leading to an abnormal number of chromosomes in daughter cells.
Aneuploidy
A condition where an organism has an abnormal number of chromosomes, typically due to nondisjunction (e.g., having one extra or missing chromosome).
Trisomy
A type of aneuploidy where an individual has three copies of a chromosome instead of two (e.g., Down syndrome, trisomy 21).
Monosomy
A type of aneuploidy where an individual has only one copy of a chromosome instead of two (e.g., Turner syndrome, monosomy X).
Sonography
A medical imaging technique using sound waves (ultrasound) to create images of organs and structures inside the body.
Fetoscopy
A procedure where a camera is inserted into the uterus to directly observe the fetus and gather information.
Amniocentesis
A prenatal test where a sample of amniotic fluid is taken from the sac surrounding the fetus to test for genetic conditions.
Chorionic villus sampling
A prenatal test where a sample of tissue from the placenta is taken to test for genetic abnormalities.
Phenylketonuria
A genetic disorder where the body cannot break down phenylalanine, an amino acid, leading to mental and developmental issues if untreated.
Prenatal testing
Testing done during pregnancy to check for genetic conditions or abnormalities in the fetus.
Melanosomes
Organelles in cells that contain melanin, the pigment responsible for skin, hair, and eye color.
Melanin
A pigment produced in the skin, hair, and eyes that determines color and provides protection against UV radiation.
