Ch. 22 Congenital and Childhood Disorders Flashcards Preview

Pathology > Ch. 22 Congenital and Childhood Disorders > Flashcards

Flashcards in Ch. 22 Congenital and Childhood Disorders Deck (84):
1

Normal Pregnancy and Gestation: weeks 1-8

organs are formed (embryo stage)

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Normal Pregnancy and Gestation:Weeks 9-13

face and limbs

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Normal Pregnancy and Gestation:2nd trimester

rapid growth

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Normal Pregnancy and Gestation:3rd trimester

maturation, refinement

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placenta has ( ) plates

fetal and maternal

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acts as fetal lungs, kidneys, GI tract

placenta

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provides O2 and nutrients, diposes of metabolic wastes

placenta

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job of gene

to make a protein

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chromosomes: 22 pairs, govern all but gender

autosomes

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chromosomes: gender determination

sex (X, Y)

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critical thing about stem cells

asymetrical division

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cells: all tissues but germ cells of ovary/testis

somatic

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cells: stem cells that produce ova and sperm

germ cells

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only ( ) chromosome defects are transmissible

germ cell

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germ cell chromosome defects maybe be sex-link but most are...

autosomal

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change from preestablished point

deformations

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not well made from the beginning

malformations

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deformation are caused by ( ) factors

mechanical

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normal pregnacy= ( ) weeks

40-42 weeks from LMP

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each trimester how long

~13 weeks

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malformations caused by ( ) factors, which cause failure of embryologic

environmental (not transmissible) or genetic (transmissible)

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space to close: neural tube doesn't close

spinda bifida

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tissue to divide:

syndactyly

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structure to disappear:

thyroglossal duct cyst

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organ to differentiate/grow:

thalidomide limb

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normal pregancy and gestation: embryo

through 8th week

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normal pregancy and gestation: fetus

week 9 to term

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number of pregnancy

gravidity

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number of pregnancies reaching 24 weeks

parity

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ectoderm turns into

hair, nails, epidermis

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endoderm turns into

mucosa of GI/resp tracts and liver, pancreas

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mesoderm turns into

dermins, bone, smooth and skeletal muscle, blood vessels, pleura, peritoneum, pericardium, kidneys, gonads

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mesoderm turns into

dermins, bone, smooth and skeletal muscle, blood vessels, pleura, peritoneum, pericardium, kidneys, gonads

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absense of environemtnal factors (ex. deficient folate leads to)

neural tube defects

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environmental presence: an agent causing a defect is a ( )

teratogen

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envircomental factors present: TORCH infections

toxoplasmosis, Zika/syphalis/others, rubella, cytomegalovirus, herpes

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fetal alcohol syndrome is a ( ) factor

environmental

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fetal alcohol syndrom: ( ) cells affected

somatic

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is fetal alcohol syndrome transmissible?

no

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TORCH infections are environmental factors tat cause congenital ( )

malformations

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TORCH: ( ) cells affected

somatic

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TORCH: ( ) not transmissible but ( ) may be

-condition
-infection

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( ) > chromosomes > genes > ( )

-genome
-bases

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genetic bases

adenine, cytosine, thymine, guanin (ACTG)

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( ) is the genetic code

base sequence

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a specific segment of DNA; makes one certain protein

gene

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human have ~ ( ) genes

19, 000

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genetic makeup

genotype

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physical expression of genotype

phenotyme

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a permanent change in DNA

mutation (can be change of as little as one letter_

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genetic disease: causation purely genetic, mendelian rules

monogenic

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genetic disease: environmental feactors very important

polygenic

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genetic disease: causation purely genetic

cytogenetic

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genetic disease: sickle cell

monogenic

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genetic disease: type II diabetes

polygenic

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genetic disease: down syndrome

cytogenetic

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the DNA mutation in sickle cell disease is a ( ) mutation

point

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one of a number of alternative forms of the same gene (ex. one from om and one from dae; or mutation)

allele

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identical alleles

homozygous

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non-identical alleles

heterozygous

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( ) alleles have greater power of penetrance

dominant

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one element: the percent with the allele who show some effect

penetrance

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two elements of expressivity

severity and manner

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mendel's rules: expression of ( ) disorders requires only one copy of the defective gene

autosomal dominant

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mendel's rules: expression of ( ) disorders requires both copies of the defective gene

autosomal recessive

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mendel's rules: rrecessive alleles on ( ) chromosomes are expressed

sex chromosomes (almost always X)

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x-linked recessive gene inheritance:

classic hemophilia

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mendel's rules: single-gene defects are clinically expressed according to the type of ( )

defective protiein produced by the gene

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single-gene: ( ) protein --> alpha-1 antitrypsin (emphysems)

enzyme

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receptor or transport protein: copper (wilson's disease)

transport

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receptor or transport protein:liver LDL cholesterol (familial hypercholesterolemia)

receptor

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cell growth regulation protein: protooncogene

pro-growth

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cell growth regulation protein: tumor suppressor

anti-growth

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defective fibrillin

Marfan syndrome

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defective coagulation factor VIII

hemophilia

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excess of CGG (on long arm of X)(trinucleotide repears)

fragile X syndrome

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environmental alteration of gene expression without DNA mutation. Can be heritable.

epigenetics

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expression of defect differs according to gener of parent

genomic imprinting

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most disease is ( ), a mix of environmental and genetic factors

multifactorial

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mutation affects either sex but transmibble only by female (mother --> daughter)

mitochondrial DNA genome

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normal genotype

46, XY

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structural chromosome abnormalities

extra or missing chromosomes

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some cytogenetic diseases are due to abnormal numbers of ( ) (down syndrome)

autosomes

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some cytogenetic dieseases are due to abnormal numbers of ( ) (klinefelter syndrome)

sex chromosomes