Exam 1 Flashcards
embryo
fertilization –> 9 weeks
fetus
10 weeks –> birth
neonate
birth –> 1 month
infant
1 month –> 2 years
gamete
sperm & egg
# of chromosomes in a gamete (paired or unpaired?)
23 unpaired chromosomes
meiosis
specific cellular division process resulting in the haploid # of chromosomes
ovum has __ chromosomes + an __
22 chromosomes + an x
sperm has __ chromosomes + an __
22 chromosomes + an x or y
zygote
simple one-celled organism created when ovum and sperm come together
mitosis
everyday cell division
when does mitosis begin
after the first 24 hours
cellular division begins in __ processes
two
segmentation
cleavage of a cell / cell dividing and making another exactly like itself
blastomere
when you go from one cell –> two cells
morula
cluster of cells
when does a morula occur
at the end of 72 hours
how long is the morula period
6 days
At the end of 6 days the process changes from __ to __
segmentation , cell differentiation
cell differentiation
blastomere changes into a blastocyst
A morula becomes a __ during cell differentiation
blastocyst
blastocysts ___ not ___
replicate not duplicate
trophoblast
the outer layer of cells
what does the trophoblast become?
the placenta and umbilical cord
what is inside the trophoblast?
the inner cell mass
gastrulation
the inner cell mass turns itself inside out
When does gastrulation occur?
between the 9th and 12 day
Why is gastrulation important?
- has to occur accurately or miscarriage
- changes from sturdy same celled organism to fragile
What happens after 12 days?
organism turns into embryonic disc
What are the three tissue layers of the embryonic disc?
- ectoderm
- mesoderm
- endoderm
ectoderm
outermost layer ; hair, skin, teeth, entire nervous system
mesoderm
middle layer ; middle connective tissue, bones, tendons, ligaments, blood vessels, musculature
endoderm
innermost layer ; “inner skin” , lines digestive tract, thoracic cavity, lining of lungs
What tissue layers are the heart derived from?
ectoderm & mesoderm
What tissue layers are the digestive derived from?
mesoderm with some ectoderm & endoderm
What are chromosomes made up of?
genes
genes
made up of strands of DNA
DNA
strand is made up of nucleotide pairs
What are nucleotide pairs made up of?
sugar/dexoyribose + phosphate
What are the nucleotides?
thymine, adenine, guanine, cytosine
T always goes with __
A
G always goes with __
C
Genes are the ___
blueprint/codebook
___ and ___ are coded in our genes
physical characteristics and behaviors
some genes carry a ___ and others act as ___
code , switches/activators
karyotype
literally a picture of the chromosomes
what is the largest chromosome in the set?
the first one
autosome
first 22 pairs of chromosomes
sex chromosomes
last two chromosomes (xx or xy)
Parts of a chromosome
q arm & p arm; 1/3 and 2/3
q arm
long arm
p arm
short arm/ petite arm
centromere
naturally narrow place on the chromosome
the arm gives you direction as to what part of the chromosome is ___ or ___
normal or abnormal
ex: 22 q deletion means…
something wrong with the 22nd chromosome on the q arm
genes appear on the chromosomes as ___
bands
dark bands
higher concentration of genes
light bands
lower concentration of genes
bands tell us
how closely packed the genetic material is
which chromosome is the smallest
y
mutation
error in replication; replicate is not an exact duplicate
once cell division begins, mutation is (more/less) likely
more
spontaneous mutation
mutation that simple occurs
inherited factor
one parent has a good copy, one doesn’t, the bad is inherited
teratogenic mutation
mutation caused by exposure to teratogens
monosomy
instead of two copies of a chromosome there is one
trisomy
there are three copies instead of two
deletion
deletion of certain section of the chromosome
inversion
the info is there, but it is in backwards, making it useless
translocation
genetic material is not where it is supposed to be on the correct gene so it doesn’t work
variable expression
we have exactly the same mutation but it differs in function and appearance
phenotype
how you looks, characteristics you can see
genotype
construction of the chromosome/genetics; not visible; may not affect the phenotype
incomplete penetration
an individual carrying a gene for a condition but no expression of that gene in the phenotype
my genetic material is not correct but it is not displayed in my phenotype (this is an example of what?)
incomplete penetration
autosomal dominant
the first 22 chromosomes; (+) + (-) = (+)
autosomal recessive
genes that do not show up in the offspring unless both parents carry the trait
x-linked
if there is something on the x chromosome of the mom, it is going to result in an abnormality
multifactorial mutations
something to do with the genetic material itself and the environment
chromosome analysis
analysis for finding where information is missing or incorrect on a gene
FISH
Florescence In Situ Hybridization; do blood draw, look at cells, and do chemical analysis on the cells
dysmorphology
the wrong shape; there is in an expression in the phenotype
Trisomy 21
there are 3 chromosomes in the 21st, small hands and feet, heart defect, palebral (difference in eyes) ex: down syndrome
Trisomy 13
extra copy of chromosome 13, polydactyly (extra fingers and toes), spin bifida, severe eye defects
Nostrils are also known as:
nares
One feature on the upper lip if the:
philtrum
The palatine processes are part of the:
maxilla
The eustachian tube connects the pharynx with the:
middle ear
the primary muscle of velar movement is:
the levator veli palatine
The muscles of the faucial pillars are:
palatoglossus and palatopharyngeus
The ruggae are:
transverse palatal ridges of mucosa
The teeth contained in the pre maxilla are the:
central and lateral incisors
The bones of the hard palate are joined at:
a midline raphe
The primary innervation of velopharyngeal closure is from:
CN X
The purpose of a genetics eval is to:
- make a diagnosis
- determine the course of a disorder
- determine risk of recurrence
- provide psychosocial counseling
One of the most important aspects of a genetics evaluation is:
getting a complete history
trisomy and monosomy are very serious in terms of infant mortality because:
more genetic information is wrong
Van der Woude Syndrome is common in CL/P. The chromosome involved and one of the frequent symptoms is:
C 1: Lip pits
Pierre Robin is a __ , not a __.
sequence, syndrome