Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

z OB > genetics conception fetal development > Flashcards

genetics conception fetal development Flashcards

1
Q

euploidy

A

correct or normal number of chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

polyploidy

A

too many chromosomes (even number)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

aneuploidy

A

uneven number of chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

monosomy

A

aneuploidy with one missing chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

trisomy

A

aneuploidy with extra chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

translocation

A

chromosome breaks and exchange of material between two chromosomes occurs- all or part of the broken chromosome is transferred to different part of same chromosome OR to another chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

deletion

A

loss of chromosomal material, partial monosomy for chromosome involved

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

inversion

A

portion of chromosome has been rearranged in reverse order

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

most common sex chromosome abnormality: females

A

Turners Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Turners Syndrome

A

45 XO- 1/2500- short stature, broad chest, thick/webbed neck, infertile, amennorhea, heart disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

most common sex chromosome abnormality: males

A

Klinefelter Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Klinefelter Syndrome

A

47, XXY- 1/500 to 1/1000- typically asymptomatic, however: taller, gynecomastia, reduced facial/body hair, infertility, delayed puberty

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

multifactorial inheritance: definition

A

combination of genetic and environmental factors shape this genetic transmission pattern

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

multifactorial inheritance: examples

A
  • cleft lip- cleft palate- congenital heart disease- neural tube defects
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

unifactorial inheritance: examples (kind of definition too)

A
  • autosomal dominant, recessive inheritance- inborn errors of metabolism- x-linked dominant, recessive inheritance
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Tay Sachs

A
  • lipid-storage disease, deficiency in hexosaminidase- until 4 to 6 months old, appear normal- THEN: apathy, regression in motor and social development, decreased vision- death between 3 and 4 yo- no treatment exists- common in Ashkenazi Jews, Quebecois French Canadians
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

phenylketonuria (PKU)

A
  • autosomal recessive disorder- relatively uncommon- deficiency of phenylalanine hydroxylase (liver enzyme) = phenylalanine metabolism failure = metabolites accumulate in blood- screening routinely performed/US state mandated- 1/10000 to 1/20000- highest incidence: Caucasians
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

inborn errors of metabolism

A
  • gene mutation reduces efficiency of encoded enzymes such that normal metabolism cannot occur- defective enzyme action interrupts normal series of chemical reactions from the affected point onward
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

x-linked dominant inheritance

A

mimics autosomal dominant inheritance, except that male-to-male transmission cannot occur unless the father has Klinefelter syndrome due to XY disomy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

x-linked recessive inheritance

A
  • females may be heterozygous or homozygous -males may be hemizygous - most commonly manifested in the male, with the abnormal gene on his single X chromosomedisorders ex: hemophilia, Duchenne muscular dystrophy, color blindness
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

ovum

A

unfertilized (by sperm) egg- considered fertile for 24 hours after ovulation- zona pellucida (inside layer, thick, acellular)- corona radiata (outer layer, elongated cells)

22
Q

zygote

A

fertilized egg

23
Q

morula

A

fertilized ovum –> 16 cells- produced within 3 days- still surrounded by zona pelludica- free floating in uterus

24
Q

blastocyst

A

morula –> defined structure, the blastocyst cavity- outer layer called trophoblast, surrounding hollow sphere

25
Q

embryo

A

fertilized ovum –> day 15 through 8 weeks after conception- 3cm from end to end at the end of period

26
Q

fetus

A

8 weeks since fertilization

27
Q

amnion

A

forms at implantation; develops from interior cells of blastocyst; grows with fetus and will surround umbilical cord

28
Q

chorion

A

forms at implantation; developed from trophoblast and contains chorionic villi on surfacefetal side of the placenta- contains major umbilical blood vessels

29
Q

conception

A

sequential process by which egg and sperm unite; the beginning of pregnancy. two week period.- gamete formation- ovulation- fertilization- implantation

30
Q

fertilization

A

physical union of egg and sperm- occurs in ampulla (outer third) of uterine tube

31
Q

implantation

A
  • trophoblast implants in endometrial cells- between 6 to 10 days
32
Q

primary germ layers (3)

A

ectoderm, mesoderm, endoderm

33
Q

ectoderm*

A

gives rise to: - epidermis- glands (ant. pit, cutaneous, mammary)- nails & hair- central & peripheral nervous systems*- lens of eye- tooth enamel- floor of amniotic cavity

34
Q

mesoderm*

A

gives rise to:- bones and teeth- muscles (skeletal, smooth, cardiac)- dermis & connective tissue- cardiovascular system & spleen- urogenital system

35
Q

endoderm*

A

gives rise to:- epithelium lining respiratory and digestive tracts- glandular cells of associated organs (oropharynx, liver, pancreas, urethra, bladder, vagina)- roof of the yolk sac

36
Q

oligohydramnios

A
37
Q

polyhydramnios

A

> 2L amniotic fluid- associated with GI and other malformations (stricture of GI means fluid being swallowed, not filtered, comes back out and builds up)

38
Q

umbilical cord

A
  • link between fetus and placenta (filter)- transports O2 and nutrients to fetus FROM placenta, returns waste products from fetus TO placenta- 2 arteries, 1 vein, filled with Wharton’s Jelly- no pain receptors
39
Q

placenta not fully functional until…

A

…end of first trimester

40
Q

placenta

A
  • produces hormones that regulate maternal pregnancy symptoms (subside by end of first trimester)- FILTER– diffusion: gases, water, electrolytes– facilitated: glucose, amino acids, minerals– pinocytosis: minute particle movement- mother transmits IgG to fetus- leakage is defect, may allow maternal/fetal blood mixing
41
Q

Shiny Schultz

A

placenta attached to baby, usually comes out this way

42
Q

Dirty Duncan

A

placenta attached to mom, make sure all lobes of placenta are present if it comes out this way; not abnormla but pieces can be left in uterus

43
Q

respiratory distress syndrome (RDS)

A

results from decreased pulmonary gas exchange- retention of CO2 (increased arterial PCO2)most common neonatal causes:- prematurity- perinatal asphyxia- maternal DM- hyaline membrane diseaseinsufficient surfactant!

44
Q

fontanel

A

where >2 bones meet

45
Q

omphalocele

A

hernia of abdominal contents through navel; present at birth if midgut does not return to abdomen during week 10 after projecting into cord week 5

46
Q

meconium

A

dark green to black tarry waste accumulated in fetal intestine near term

47
Q

viability

A

capability of fetus to survive outside uterus at the earliest gestational age: 22-24 weeks

48
Q

fetal/infant survival depends on

A
  • maturity of fetal central nervous system- maturity of lungs
49
Q

only immunoglobulin that crosses the placenta

A

IgG - passive acquired immunity to specific bacterial toxins

50
Q

associated with neural tube defects

A

inadequate folic acid intake- NTD could be decreased 50-70% with adequate folic acid intake during periconception period

z OB (10 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions