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Pathology Final > Chromosomal Abnormalities > Flashcards

Chromosomal Abnormalities Flashcards

1
Q

genetic information is transmitted to daughter cells under 2 circumstances:

A

-mitosis - diploid replicates itself

-germ cells undergo meiosis - reduction of diploid (2n) to haploid state (1n) - when fertilized diploid state is restored to form zygote

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2
Q

what is mosaicisim? when does it occur?

A

the presence of 2 or more cell lines with different chromosome compositions in an individual

occurs bc of non-dysjunction after fertilization - when chromosomes don’t separate correctly

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3
Q

2 chromosome abnormalities?

A

numerical

structural

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4
Q

name 5 chromosome numerical abnormalities

A

euploidy
triploidy
tetraploidy
aneuploidy
monosomies

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5
Q

what is euploidy

A

chromosomal numeral abnormality

the addition of loss of complete sets of chromosomes - so the category of chromosomes changes

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6
Q

what is triploidy and what is it caused by?

A

possession of a complete extra set of chromosomes

caused by polyspermy (fertilization of an egg by more than 1 sperm)

sponatneously aborts

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7
Q

tetraploidy is a result of….

A

failure of the first zygotic division
lethal to the embryo

chromosomal numeral abnormality

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8
Q

what is aneuploidy
when does it occur?

A

the category of chromosome changes but does NOT involve whole sets

failure of a single chromosome to complete division

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9
Q

all autosomal __ are lethal in very early embryogenesis

they abort too early to even be recognized as a conception

A

monosomies

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10
Q

name 2 meiosis errors

A

homologs fail to separate (meiosis 1)

chromatids fail to separate (meisosis 2)

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11
Q

give 2 examples of autosomal aneuoploidies

A

down syndrome (Trisomy 21)
edwards syndrome (trisomy 18)

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12
Q

trisomy 18

A

edwards syndrome

aneuploidy

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13
Q

trisomy 21

A

downs syndrome

aneuploidy

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14
Q

karyotype for complete androgen insensitivity syndrome

A

46, XY

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15
Q

karyotype for triple X female

A

47, XXX

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16
Q

karyotype for klinefelter syndrome

A

47, XXY

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17
Q

karyotype for jacobs syndrome

A

47, XYY

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18
Q

true or false

the karyotype for klinefelter syndrome is 47, XYY

A

FALSE

47, XXY

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19
Q

Karyotype for Turner Syndrome

A

45, X0

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20
Q

random X-inactivation is established by the expression of what gene?

A

XIST gene

inactive X is coated by XIST RNA

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21
Q

once the XIST gene is expressed and the X is coated by XIST RNA, how is X inactivation maintained?

A

by methylation of DNA cytosine residues

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22
Q

explain what happens to females with turner syndrome

A

45, XO

they’re missing an X chromosome

they have delayed menarche and premature menopause

however, most of their offspring are chromosomally normal

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23
Q

men born with an extra X chromosome

A

klinefelter syndrome

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24
Q

men have FSH and LH

A

klinefelter syndrome (extra X chromosome)

25
Q

females are

A

XX

26
Q

what are the 2 major types of chromosomal translocations?

A

reciprocal - 2 chromosomes exchange genetic material

robertsonian - fusion of 2 chromosomes with the loss of short arms

27
Q

what are isochromosomes

A

split the wrong way in mitosis

both long arms remain attached and both short arms remain attached - moving to opposite poles and an ISOCHROMOSOME is formed

28
Q

what are ring chromosomes

A

both telomeres removed - mutation

repaired by sealing the ends together, forming a RING CHROMOSOME

29
Q

not all genes have only 2 variations (alleles)

give an example of this

A

ABO blood type has 3 different alleles

IA
IB
i (O type)

30
Q

explain the recessive and dominant alleles in ABO blood type

A

Type O is recessive to A or B

type A and B are co-dominant and both fully expressed

31
Q

give an example of something that follows polygenic inheritance

A

1 trait related to many genes

skin, hair, eye(color), height

32
Q

what determines the pigment of eye/skin/hair?

A

it’s a polygenic trait - so the # of dominant alleles determines how much pignment is produced and the DOMINANT GENE (A/B/C) produces the pigment itself

33
Q

what is epistasis

A

when a gene’s phenotype is blocked by certain alleles of a second gene

34
Q

the mammalian mitochondrial genome has how many genes?

A

37 genes

35
Q

explain LHON and what causes it

A

leber hereditary optic neuropathy
optic nerve death in late teens and 20s

maternal inheritance - mainly homoplasmic (either mutant or normal mitochondria)

36
Q

differentiate between heteroplasmy and homoplasmy

A

heteroplasmy - mutant AND normal mitochondria

homoplasmy - either mutant OR normal mitochondria

37
Q

what are congenital anomalies

A

aka birth defects

alterations in the form or size of part(s) of the body

38
Q

what is the etiology of congenital abnormalities

A

either genetic (intrinsic)
or environmental (extrinsic)

39
Q

within the first _____ weeks of postdevelopment conception:

a fertilized egg is cleaved to become collection of blastomeres, then morula, then blastocyte

A

1st 2 weeks

40
Q

in which weeks of development is the basic body plan established and the initiation of nervous system occurs, then organogenesis

A

weeks 4-8

41
Q

name 3 prenatal tests to determine if there are congenital defects

A

amniocentesis (amniotic fluid)

CVS (chorionic villus sampling)

PGT (preimplantation genetic testing)

42
Q

what is the name for the tiny camera used in ultrasound

A

fetoscopy

42
Q

explain how deformations normally occur

A

late in pregnancy due to uterine constraint

42
Q

what are the 3 major groups of congenital abnormalities

A

malformations (intrinsic development issues)

deformation (extrinsic issues)

disruption (extrinsic disturbance in morphogenesis)

42
Q

explain what disruption is

A

an extrinsic disturbance in morphogenesis. a previously formed organ is damaged by something in the uterus (like the amnion)

42
Q

what is agenesis

A

complete absence of an organ/part of an organ/ certain cell type in an organ

42
Q

what is potter sequence

A

reduced amount of amniotic fluid

42
Q

jaundice is related to….

A

inability for the liver to conjugate bilirubin

42
Q

hypoplasia

A

reduced size due to incomplete development of whole or part of an organs

42
Q

division failures are caused by…

A

incomplete apoptosis in embryonic tissues

results in syndactylyl (fingers are conjoined or not fully separated)

43
Q

microcephaly is an example of….

A

hypoplasia
(small brain and head)

43
Q

what is the acronym for in utero infections

A

TORCH

Toxoplasmosis
Other (syphilis)
Rubella
Cytomegalovirus
Herpes simplex virus

43
Q

what is fetal hydrops

A

mild edema or localized fluid collections in infants

they may be stillborn or die shortly after

caused by Rh incompatibility between fetus and mom

43
Q

what are dysraphic anomalies?

A

defects causes when structures fail to fuse

43
Q

what is atresia

A

incomplete formation of an orifice or tubular passage

43
Q

what are….

hamartomas
choristomas
hemangiomas
lymphangiomas

A

benign tumors of childhood

43
Q

explain thalidomide crisis

A

impaired limb production by blocking angeiogensis

1960

43
Q

true or false

nicotine and alcohol are teratogenic drugs

A

true

43
Q
A

Pathology Final (11 decks)

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