Study your flashcards anywhere!

Download the official Cram app for free >

  • Shuffle
    Toggle On
    Toggle Off
  • Alphabetize
    Toggle On
    Toggle Off
  • Front First
    Toggle On
    Toggle Off
  • Both Sides
    Toggle On
    Toggle Off
  • Read
    Toggle On
    Toggle Off

How to study your flashcards.

Right/Left arrow keys: Navigate between flashcards.right arrow keyleft arrow key

Up/Down arrow keys: Flip the card between the front and back.down keyup key

H key: Show hint (3rd side).h key

A key: Read text to speech.a key


Play button


Play button




Click to flip

118 Cards in this Set

  • Front
  • Back
What is the study of chromosome abnormalities?
Cell with normal chromosome number
Cell with missing or extra chromosomes
Is missing or adding genetic material more deleterious?
centromere in middle of chromosome
centromere near tip of chromosome
centromere between end and middle of chromosome
short arm of acrocentric chromosome
"p" arm
long arm of acrocentric chromosome
"q" arm
one homologue is missing
one extra chromosome
When does nondisjunction usually occur?
oogenesis in mothers over 35
Trisomy 21
Down Syndrome
Mode of inheritance of Down Syndrome
Features of Down Syndrome
-palpebral fissures slant upwards
-flat maxillary region
-short neck
-increased risk of leukemia
-congenital heart defects
-GI obstructions
-degree of mental retardation
-life expectancy in 50's
Describe possibility of translocation in Down Syndrome
piece of chromosome 21 breaks off and attaches to another chromosome (usually 14)
Trisomy 18
Edwards Syndrome
Features of Edwards Syndrome
-elfin features
-SGA (small for gestational age)
-clenched fist with outer fingers overlapping middle fingers
-heart malformations
VSD (ventricular septal defect)
-1 in 6,000 births
-fatal within first year
Trisomy 13
Patau Syndrome
Features of Patau Syndrome
-cleft palate
-atrial septal defects
-inguinal hernia
-degree of mental retardation
-1 in 1,000 births
What is the test for women of advanced maternal age to rule out chromosomal abnormalities?
13, 18, 21
oocyte with no chromosomes, fertilized by X
Turner Syndrome 45X
Features of Turner Syndrome
-1 in 2500
-webbed neck
-no secondary female sex characterisitcs
-may be mild retardation
-diagnosed at puberty
-no Barr body in affected cell
-usually due to mosaicism
How can Turner Syndrome be treated if diagnosed early?
What is 47XXY?
Klinefelter Syndrome
Features of Klinefelter Syndrome
-diagnosed when infertility is discovered
-1 in 1000
-body out of proportion
-small testes
-degree of learning disabilities
-risk of osteoporosis/breast cancer
Treatment of Klinefelter Syndrome
testosterone if caught early
Characteristics of XXX
mild or none
Characterisitics of XYY
-males with few physical problems
-minor behavioral problems
Features of Fragile X Syndrome
-X chromosome almost has piece falling off
-large head, elongated face
-prominent ears
-affects boys
-more frequently mother to son
What role does FMR1 have in Fragile X Syndrome?
affects protein product shuttles between nucleus and cytoplasm
What is the term describing a disorder that becomes more severe and more frequent over generations?
What nucleotide sequence is repeated in disorders of increasing severity?
How many nucleotide repeats is considered normal?
How many nucleotide repeats is considered a pre-mutation?
How many nucleotide repeats is considered an affected individual?
During which cycle would the liklihood of nucleotide repeats occur?
What disorder requires a diet low in protein?
What is the treatment of classic galactosemia?
avoid dairy products
Features of classic galactosemia
-failure to thrive
-developmentally delayed
-hepatic insufficiencies
What disorder is characterized by an accumulation of metabolic by-products?
lysosomal disorders
What systems deteriorate in lysosomal disorders?
What is an example of a lysosomal disorder?
Hurler syndrome
What is treatment for Hurler's syndrome?
What are features of Hurler's syndrome?
-coarse facial features
-crouched stance
What disorder is characterized by a build-up of fatty acids?
MCAD deficiency
What must be remembered when giving someone with MCAD deficiency an IV?
supplement saline with sugar
What are features of MCAD deficiency?
-cerebral edema
-liver/kidney problems
-fatal if not diagnosed
When does MCAD deficiency present?
after period of fasting
What happens one week after fertilization?
migration through fallopian tubes to uterus
What is the term for a zygote at the 2-cell stage?
What is the term for cells that have the potential to give an entire animal?
Up to what cell stage are cells totipotent?
4-8 cells
When does compaction occur?
during 16-cell stage
What allows cells to communicate with each other?
gap junctions
What gives rise to the entire embryo?
inner cell mass
What are the cells surrounding the embryo that don't give rise to any part of the embryo?
T or F - The inner cell mass is pluripotent
What needs male influence to form?
Which part of the embryo implants into endometrial lining?
What secretes enzymes to break down tissue of endometrium?
What two parts is the trophoblast separated into?
1. daughter cells
2. cytotrophoblast
Describe the daughter cells of the trophoblast
What does the cytotrophoblast give rise to?
cellular portion of fetal placenta, chorion
What is the inner cell mass called when it flattens into a layer of tissue?
How does the epiblast form the amnion?
edges roll up to form a dome
What is the process of the epiblast becoming three layers?
What are the three germ layers?
1. ectoderm
2. mesoderm
3. endoderm
What does the ectoderm form?
skin, hair, nails
What does the mesoderm form?
muscle, bone, cardio
What does the endoderm form?
lining of gut from mouth to anus
At what age is the embryo considered a fetus and displays facial features?
8 weeks
What is the rod of mesodermal cells that forms the brain and spinal cord?
What controls which genes do/don't get transcribed and is in the receiving cell?
transcription factors
What happens when the notochord is removed?
no further development
What happens when an extra notochord is inserted?
two embryos
Describe the limb bud
ectodermal jacket around mesoderm
What is the pile of ectoderm at the tip of the limb bud?
apical ectodermal ridge
What happens when the AER is removed?
development stops
What is in the posterior region of the mesoderm and determines the polarity of digits?
zone of polarizing activity
What happens when the ZPA is removed?
AER goes away and development stops
What instructs the tissue as to what it will be?
diffusable morphogen
Where is the diffusable morphogen more concentrated?
closer to the source
What forms a pattern under control of diffusable signal?
positional information
What is a teratogen that pregnant women should avoid?
retinoic acid
What does retinoic acid mimic?
diffusable morphogen
In salamanders, when a limb is severed what grows over the stump?
What happens to tissue under the ectocap?
de-differentiates to regeneration blastema
What happens when the severed limb of a salamander is treated with retinoic acid?
new limb grows
What eminates from the AER?
FGF (fibroblast growth factor)
What are freely diffusable signaling molecules?
secreted ligands
What is at the root of telling cells what to become?
sonic hedgehog (shh)
Where is Shh?
ZPA, notochord
What is the homeotic gene that is 180 base pairs long and is the code for DNA binding proteins?
What tweaks the protein into specific shape to bind to DNA and chooses which genes are read?
What is caused by a mutation in Shh?
What gene is found in everything and determines basic differentiation?
What maintains stem cells?
What is an increased number of cells without obvious change to tissue?
What is increased cell growth with obvious change to cell?
What is spreading and invasiveness of changing cells?
one cell is transformed and all tissue of tumor is descendant of that one cell
What is epithelial cancer?
What is connective tissue/muscle cancer?
What is lymph cancer?
What are three features of transformed cells?
1. lack contact inhibition
2. angiogenesis
3. don't drop out of cell cycle
What is a mitosis promotion factor?
cdk (cyclin-dependant kinase)
How does cyclin work when mutated growth factors?
Cdk on all the time and cells divide
What are normal genes for normal growth factor?
What are mutated genes that signal unlimited cell division?
What are factors that stop growth in the case of chromosome abnormalities?
tumor suppressors
What occurs if DNA repair is not possible?
What initiates inhibition of cdk-cyclin?
T or F - Most cancer cells are aneuploid
What is the term for aging of the cell?
What is the end of the chromosome that repeats to protect DNA?
How does senesence occur?
as DNA is copied, telomeres shorten, which doesn't allow ends to tuck over to protect DNA
What is secreted by tumors, placental cells that allows telomere lengthening?