A random change in the sequence of nucleotides in DNA.
Mutation
Changes that occur within individual genes in a chromosome
gene mutation
type of gene mutation with the deletion or addition of nucleotides resulting in disruption of codon sequence
Frameshift
type of gene mutation when one base is substituted with another letter
Point
Changes in the structure of a chromosome
chromosomal mutation
Chromosome breaks and a piece of chromosome is lost OR when bases are removed
Deletion
Part of a chromosome breaks off and is incorporated into its homologous chromosome
Duplication
A part of chromosome breaks off and attaches to a different, non-homologous chromosome
Translocation
The entire base sequence of all the DNA in an organism
Genome
When a part of a chromosome breaks off, turns around (flips), and reattaches in the reverse order
Inversion
A photograph of all organism's chromosomes
Karyotype
Failure of chromosomes to separate during cell division; causes monosomy and trisomy in sex cells
Nondisjuction
The zygote has only ONE copy of a particular chromosome
Monosomy
The zygote has THREE copies of the chromosome
Trisomy
a diploid cell resulting from the fusion of two haploid gametes; a fertilized ovum.
zygote
The hollow ball of cells marking the end stage of cleavage (second embryo stage)
Blastula
an embryo at the stage following the blastula, when it is a hollow cup-shaped structure having three layers of cells. (third embryo stage)
Gastrula
A solid ball of cells that makes up an embryo; in humans, this stage occurs within four days of fertilization. (first embryo stage)
Morula
the developing human organism from about 2 weeks after fertilization through the second month
embryo
study of embryos and their development
Embryology
trisomy of chromosome 13; in babies - cleft lips, polydactyly, rocker bottom feet, heart issues...
Patau Syndrome
trisomy of chromosome 21; affects facial features and intellectual ability
Down Syndrome
A chromosomal disorder in which males have an extra X chromosome, making them XXY instead of XY.
Klinefelter syndrome
trisomy of chromosome 18; in babies - low-set ears, overlapping fingers, rocker bottom feet, heart issues...
Edwards syndrome
A chromosomal disorder in females in which either an X chromosome is missing, making them
Turner Syndrome
a partial deletion in chromosome 5 that results in children who are mentally disabled, have small heads, and have a cry that sounds like a loud cat
Cri du chat
Two babies born physically connected to each other
Conjoined twins
twins who develop from separate fertilized eggs.
fraternal twins
twins who develop from a single fertilized egg that splits in two
identical twins
when homologous chromosomes pair up and form tetrads (synapsis) and then crossing over occurs, assorted independently of each other
Prophase 1
when tetrads (homologous chromosomes) are lined up next to each other at the equator; X's are on top of each other
metaphase 1
when X's are lined up next to each other at the equator; chromatids are on top of each other
Metaphase 2
when tetrads (homologous chromosomes) split up and X's head to opposite poles
Anaphase I
when the X splits up and sister chromatids move to opposite poles
anaphase 2
the pairing of homologous chromosomes during prophase I of meiosis
synapsis
the exchanging of genes between homologous chromosomes; genetic recombination event #1
crossing over
Mendel's 2nd law, stating that allele pairs separate from one another during gamete formation (prophase I crossing over has each gene exchanging independently of each other, then anaphase I they split up into separate gametes)
law of dependent assortment
Mendel's 1st law that states that the pairs of homologous chromosomes separate in anaphase I of meiosis so that only one chromosome from each pair is present in each gamete
law of segregation
site of crossing over
chiasmata
structure containing 4 chromatids = 2 X's = a pair of homologous chromosomes; formed in synapsis
tetrad
Egg production via meiosis
oogenesis
production of sperm via meiosis
Spermatogenesis
human egg
ovum
Process in sexual reproduction in which male and female reproductive cells join to form a new cell
fertilization
Cells produced in females in meiosis that do not participate in reproduction
polar bodies
an immature male sex cell
spermatids
where meiosis occurs
testes and ovaries
haploid, human gametes (sex cells)
sperm and egg
plural form of ovumov
ova