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
Reading...
Front

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

image

Play button

image

Play button

image

Progress

1/90

Click to flip

90 Cards in this Set

  • Front
  • Back
What is the leading cause of infant mortality
genetic diseases
what is another way of saying family history
pedigree
how many chromosones does each person have.
46 chromosomes in pairs or 23 pairs
22 pair are autosomes
1 pair is sex chromosome
where are the genes located?
How many genes per trait?
genes are located on the chromosome
there are 2 genes for every trait
The genetic code
how is it sequenced?
it is a sequence of 3 letter words made up from a 4 letter alphabet. there are 64 Possible code words.
How many codes does it take to make one amino acid?
three
What is the human genome project?
an international effore to map the genomes. have found so far that there are less genes than thought. and 99.9% of all our DNA is the same as someone elses
Terminology
Genetics
genomics-another name for genetics. it is interaction b/w genes and environment not statid
pharmacogenetics-looking to prescribe meds that fit out genetic level
What is a genotype
A genotype is the genetic expression.(genetic make-up) The pair of genes present for a particular characteristic or protein
what is a phenotype
Physical expression; the expression of the genes present in an individual. i.e eye color or blood type
What is a karyotype?
a picture taken of chromosomes in numeric order shows sex and any chromosomal defects
What is meiosis?
The division of a sex cell
Autosomal abnormalities of chromosome number
NONDISJUNCTION DURING MEIOSIS
a pair of chromosmomes fail to seperate equally causing the new pair to either have one extra or one less
What happens if you have one more: 47 chromosomes
called a trisomy
What happens if you have one less :45 chromosomes
monosomy and it is NOT compatible with life.
TRISOMAL ABNORMALITIES
Trisomy 21/ down syndrome
sm rounded skull, outward slanting eyes, ears and nose small, *SIMIAN CREASE* hands short and wide, feet short.HYPOTONIC, caridac anomolies, weak immune so freq infections, developmental delays
TRISOMAL ABNORMALITIES
Trisomy 13/ Patau syndrome
very small, cardiac defects, structural defects, abn genitalia, finges overlap thumbs, low set ears MOST DO NOT SURVIVE FIRST YEAR OF LIFE, more severe than trisomy 21
TRISOMAL ABNORMALITIES
Edwards syndrome/trisomy 18
developmental and motor delays, SEVERE COMMUNICATION PROBLEMS, not as severe as trisomy 13 but more than 21
NONDISJUNCTION DURING MITOSIS
ERROR in cell division after fertilization (therefore after miosis)
Mitosis with 45 chromomsome
not compatiable with life
trisomy defects
NONDISJUNCTION DURING MIOSIS
MOSAICISMS ARE FORMED WITH 47
variable effects-could be classified as downs but would be less severe
NONDISJUNCTION DURING MITOSIS
ABNORMALITIES OF CHROMOSOME STRUCTURE
Deletion
portion of one chromosome is deleted and added to another, or may be deficient
effects can be mild or severe
CRI DU CHAT
example of deletion infant has low birth wt. hypotonic, and VERY high pitch cry, organ/cardiac defects and mental retardation
ABNORMALITIES OF CHROMOSOME STRUCTURE
Translocation
Genetic material transferred from one chromosome to another. normal chromosome in each pair, individual may be unaffected but a carriet, or may have an extra copy
MOSAICISMS ARE FORMED WITH 47
variable effects-could be classified as downs but would be less severe
NONDISJUNCTION DURING MITOSIS
Sex Chromosome disorders
Klinefelter syndrome
Most common male disorder
trisomy of sec chromosome, 2X's and 1Y, has female charecteristics
Sex chromosome disorders
Turner Syndrome
Most common female disorder
mOnly 1 X, (only 45 chromo that is compatible with life)
Has more male charecteristics
Patterns of Genetic Transmission
Multifactoral
combo of genetics and environment
mild-severe
familial
-cleft lip
-pyloric stenosis
-neural tube defects(caused by genetics and nutrional (folic acid) and envornment
Patterns of genetic transmission
Unifactorial MENDELIAM
single gene defect
-autosomal dominant
-autosomal recessive
-X linked dominant
-X-lined recessive
Autosomal dominant inheritance of birth defect
1 abnormal gene-(can get trait)
50% risk for each child to get defective gene
ex:huntingtons, polydacytily and Marfan
a
Autosomal dominant
a
a
a
a
What is huntington's disease
dominantly inherited disease of the CNS marked by involuntary writhing, ballistic or dancelike movements)
Marfan Syndrom
Disorder of the CT
Weakness and streatching.
will see tall, thin. arm span is longer than ht.
Neurofibromatosis
nerve tumors
1/2 of all cases occur as spontaneous genetic mutations other 1/2 are autosmal dominant
Recessive inheritance of a birth defect
Both parents usually unaffected. carries a normal gene which dominates and recessive counterpart
25% risk of inheritin
50%risk of being a carrier
Sex linked inheritance of a birth defect
females only a carrier
50/50 for woman to be carrier
50/50 males to be infected
ex;hemophilia, muscular dystropy
X-linked dominant inheritance
fragile X
affected females have normal gene but dominat gene so if male has affect X than daughter will get it.
most common form is learning disablitly
tends to affect mens intelligence more than womans
Genetic Screening
Chorionic Villi Sampling
done at 10-12wks done if hx of genetic disease, adv maternal age, previous child with defect
Genetic Screening
Chorionic Villi Sampling
Side Effects
Miscarriage
infection
hemorrhage
preterm labor
Amniocentisis
done after 14wks under ultrasound done if hx of genetic disease, adv maternal age, previous child with defect
Amniocentisis
S/E
Miscarriage
infection
hemorrhage
preterm labor
what is formed when an ova and sperm unite
a zygote
where does fertilization occur
in the ampulla (outer 1/3 of the fallopian tube)
what is the ectoderm
Ecto0 outer layer of cells in the develping embryo-produces skin structures, the teeth and glands of the mouth, the nervous system, orgnas of special sense, part of pit, pineal and supradrenal glands
What is the endoderm
the innermost of the three layer. it gives rise to the epithelium of the digestive tract and its associated glands, the respiratory organs, bladder, vagina and urethra
What is the mesoderm
middle layer-all CT, muscular, skeletal, circulatory, lymphatic and urogential systems and the lining of the body cavities
What are the two layer of the blastocyst
inner layer-forms embryo/amnion

Outer layer0forms chorion/fetal placenta
What happens to each layer after implantation in the endometrium?
the amnion blends with the unbilical cord and the chorion blends with the placenta
What is fetilizated egg called at 8 wks
embryo
what is the funciton of the amniotic fluid?
the fetus drinks and voids into the fluid. it is sterile, it suspends and protects the growing fetus
What is the function of the placenta
transport and exchange of gases and nutrients
What are some things that don't pass through the placenta
meds such as insulin and heparin
lg. viruses
what could happen if the placenta is not working
hypoxiam cardiac arrest
does the blood of the mom and baby mix
normally no but there is only a thing layer that seperates them so if a break occurs then it could happen
how do you differentiate moms HR from FHR
funic souffle-swish over umbilical cord-baby
Uterine souffle-blood through placenta-moms HR
Endocrine function of the placenta
hCG
human chorionic gonadotropin- present 8-12d after feritilization. matains corpus luteum which helps maitan preg
What are some things that don't pass through the placenta
meds such as insulin and heparin
lg. viruses
what could happen if the placenta is not working
hypoxiam cardiac arrest
does the blood of the mom and baby mix
normally no but there is only a thing layer that seperates them so if a break occurs then it could happen
how do you differentiate moms HR from FHR
funic souffle-swish over umbilical cord-baby
Uterine souffle-blood through placenta-moms HR
Endocrine function of the placenta
hCG
human chorionic gonadotropin- present 8-12d after feritilization. matains corpus luteum which helps maitan preg
Endocrine function of the placenta
human placental lactogen hPL
produced by placenta and it changes moms metabolism so that there is increased nutrient supply-like a growth hormone
Endocrine function of the placenta
Progesteron
steroid it decreases the irritability of uterine contractions/stimulates breast development
High at begining low at end
Endocrine function of the placenta

Estrogen
steroid-maintains the endometrium or decidua. stimulates uterine growth, increases blood flow to uterus/placenta. stimulates contractility. growth of breast tissue
low at begin/high at end
UMBILICAL CORD
contains baby blood
fromed from amnion
has 3 vessels
whartons jelly
what is the function of the 2 arteries and 1 vein in the umbilical cord?
the arteries carry AWAY the blood and the vein carries it to (reverse than when born)
what is the role of whartons jelly
protects the cord. after birth helps dry out the cord
Stages of development
pre-embryonic
first two weeks (any injury results in SpAb)
Stages of development
Embryonic
Fetal
15d- 8wk
8wk -delivery
injury to fetus less significant as fetal age increases.
What is the endometrium called after inplantation
the decidua
what does the amnion blend with and what does the chorion blend with?
amnion-the umbilical cord
chorion-placenta
Developmental milestones for the embryo/fetus
4wks-fetal heart beings to beat
8wks- well eyes/ears/nose/mouth/digits
12wk-sex recognizable
16wk-mother feel quicking
20-lanugo
24-hearing
28-weak cry/suck reflex
36-plump/surfactant/ myellination of brain begins
Factores that influence enbryoic/fetal develpment
chromosomal or genetics
environmental teratogens i.e. etoh, smk, caffine, x-rays, meds, consider paternal exposure as well
critical periods for exposure
not susceptiable in 1st 2wk/ if are embryo would die
depending on tetragon susceptiable between wk3-16
Results of specific diseases
Toxoplasmosis
10-15% SpAb or still birth
preemie, pyschomotor deficits, retardation
Results of specific diseases
Gonorrhea
eye infection
Results of specific diseases
Syphillis
early detection is improtant. treatment does not cross placenta until 16-18wk. if exposued:preemie, target organs affected ie liver, splees, adrneals
Results of specific diseases
Hep B
if baby born with it affects liver function 75% mortality rate and child may become carrier.
given immunoglobin at birth
Results of specific diseases
HIV
may be asymptomatic
see: failure to thrive secondary infections
Results of specific diseases
Rubella
check titer if antibiodies in baby 1:8 would indicate eubella see: growth retardation, cataracts, failure to thrive, heart defects
Results of specific diseases
cytomegalovirus
miscarrage or stillbirth. 90-95% are asymptomatic and may only dectect hearing loss. see learning disabilities, SGA, mentatl retardation and learning diabilities
Results of specific diseases
Herpes
encepholitis
local infection in the eye/skin or mouth
Prevention for specifice diseases
toxo, syphillis, rubella, HIV/Herpes
toxo-no cleaning litter box
seek early treatment/diagnosis for rubella
safe sex for hiv and herpes
Teratogenic medications
streptomycin-affects 8th craninal nerve
tetracycline-yellow teeth, affects bones
diethlstillbesterol (DES) cervical CA
Coumading-skeletal defects, facial anomolies
orinase-limb abnoiles
Drug categories for drugs
category A-Safest
Cat X- contraincicated in preg
Cocaine addicted newborn
moms on cocaine- high BP, low blood flow to uterus
babies born-preemine, SGA, addicted. HIGH pitch cry, high SID rate, diffcult to console
Environment-Fetal alcohol sprectrum disorders
FAS- charecterstic quality to facial expression m/b omcreased hyperactivity
1st clue is facial
see cardiac problems and failure to thrive