Genetic disorder - ANSWER An abnormal condition that a person inherits
through genes or chromosomes
chromosome - ANSWER coiled strands of DNA carrying genes
- somatic cells are diploid (46)
- gametes are haploid (23)
somatic cells - ANSWER Any cells in the body other than reproductive cells,
46 chromosomes - diploid
gamete cells - ANSWER sex cells, 23 chromosomes - haploid
karyotype - ANSWER pictorial analysis of an individual's chromosomes
*placental tissue/amniocentesis can provide this*
Normal female karyotype - ANSWER 46, XX, no Y chromosomes
Normal male karyotype - ANSWER 46, XY
trisomy - ANSWER 3 copies of a chromosome instead of 2
monosomy - ANSWER missing a chromosome, individual has 45
chromosomes
mosaicism - ANSWER -Occurs after fertilization
-Results in an individual with 2 different cell lines, each having a different
,chromosomal number
-More common in sex chromosomes
turner syndrome - ANSWER A chromosomal disorder in females in which
either an X chromosome is missing, making the person XO instead of XX, or
part of one X chromosome is deleted.
two examples of mosaicism - ANSWER turner syndrome and klinefelter
syndrome
Klinefelter syndrome - ANSWER A chromosomal disorder in which males
have an extra X chromosome, making them XXY instead of XY.
Abnormalities of Sex Chromosomes - ANSWER - occur in early embryonic
stage
- examples include Turner's syndrome and Klinefelter's syndrome
autosomal dominant inheritance - ANSWER - 50% chance of passing on the
gene if one parent is affected
- males and females are equally affected
- varying degrees of presentation
- disorders include: huntington's disease, myotonic dystrophy, fragile X
syndrome
responsibility of nurse in prenatal diagnostic testing - ANSWER - conselling
before screening/testing
- available to all women presenting for prenatal care
- recognize emotional impact on family
Genetic Ultrasound - ANSWER form of diagnostic test, best at 16-20 weeks
maternal serum screening - ANSWER Determines risk for Down syndrome,
trisomy 18, or open spina bifida
noninvasive prenatal testing through cell-free fetal DNA - ANSWER testing
for woman of advances maternal age
genetic amniocentesis indications - ANSWER - maternal age 35+
- previous child born with chromosomal abnormality
- parent carrying chromosomal abnormality
- mother carrying X linked disease
- both parents carrying autosomal recessive disease
- family hx of neural tube defects
The benefits of buying summaries with Stuvia:
Guaranteed quality through customer reviews
Stuvia customers have reviewed more than 700,000 summaries. This how you know that you are buying the best documents.
Quick and easy check-out
You can quickly pay through credit card or Stuvia-credit for the summaries. There is no membership needed.
Focus on what matters
Your fellow students write the study notes themselves, which is why the documents are always reliable and up-to-date. This ensures you quickly get to the core!
Frequently asked questions
What do I get when I buy this document?
You get a PDF, available immediately after your purchase. The purchased document is accessible anytime, anywhere and indefinitely through your profile.
Satisfaction guarantee: how does it work?
Our satisfaction guarantee ensures that you always find a study document that suits you well. You fill out a form, and our customer service team takes care of the rest.
Who am I buying these notes from?
Stuvia is a marketplace, so you are not buying this document from us, but from seller Belina. Stuvia facilitates payment to the seller.
Will I be stuck with a subscription?
No, you only buy these notes for $10.99. You're not tied to anything after your purchase.