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b.PATHOLOGY FINALS / Embryology > LN 08 (Developmental Malformation) > Flashcards

LN 08 (Developmental Malformation) Flashcards

1
Q

simply imply that the individual is born with the defect and has no reference to it being hereditary or not

A

congenital defects

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2
Q

How is hereditary defects not always congenital?

A

some are made manifest later in life of the individual

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3
Q

physical expression of a trait

A

phenotype

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4
Q

genetic constitution of an organism

A

genotype

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5
Q

unit of genetic information (gene) is transmitted unchanged from generation to generation

A

first law

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6
Q

alternate forms of the gene must segregate during gamete formation and recombine independently in the offspring to provide a 1:2:1 ratio

A

second law

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7
Q

alternate form of gene

A

alelle

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8
Q

non-allelic traits do not segregate but assort randomly and recombine with a probability representing the product of their independent probabilities

A

third law

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9
Q

Three modes of genetic defect transmission

A
  1. Mutant genes of large effect
  2. Change in number or morphological state of chromosomes
  3. Additive effects of many genes of small effects but influenced by environmental factors
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10
Q

are expressed according to the foregoing laws of inheritance

A

mutant genes of large effect

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11
Q

most commonly reported
genetic defects in domestic animal species

A

autosomal recessive inheritance

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12
Q

most commonly reported
genetic defects in humans

A

autosomal dominant inheritance

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13
Q

individual contains a pair
of identical alleles of a given gene

A

homozygous

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14
Q

individual contains different alleles for a given gene

A

heterozygous

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15
Q

ratio between those affected and not affected in any given mating is

A

three phenotypic normal to one affected individual, or 25% chances

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16
Q

congenital tremor

A

pig

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17
Q

cerebellar atrophy

A

sheep

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18
Q

cerebellar hypoplasia

A

cattle

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19
Q

cranium bifidum

A

pig

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20
Q

congenital hydrocephalus

A

cattle

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21
Q

atresia ani

A

pig

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22
Q

chediak-higashi syndrome

A

cattle, horse

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23
Q

combined immunodefiecency

A

horse

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24
Q

inherited goiter

A

sheep

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25
Q

familial polycythemia

A

cattle

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26
Q

congenital porphyria

A

cattle, pig

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27
Q

Cases reported in farm animals that are expressed by autosomal dominant
inheritance include

A
  1. idiopathic epilepsy
  2. familial convulsion in cattle
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28
Q

heterozygote affected animal mates with a homozygote animal, each offspring has ___ risk of being affected

A

50%

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29
Q

both parents are heterozygote affected, the risk that the offspring produced are affected increases to

A

75%

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30
Q

Breeding patterns that result to a defect observed to occur in the males
only tend to suggest that the defect is

A

Y linked

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31
Q

Two types of chromosomal abnormalities

A
  1. numerical abnormality
  2. structural abnormality
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32
Q

Abnormalities in the number of chromosomes are called

A

heteroploidy

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33
Q

individual is born and carries with its multiples of the haploid number of its chromosomes

A

polyploidy

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34
Q

involves either an increase or decrease in the normal number of chromosomes without regard to completion of full haploid set

A

aneuploidy

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35
Q

there are three sex chromosomes instead of two

A

trisomy

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36
Q

f only one sex chromosome
occur (e.g., OX, OY)

A

monosomy

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37
Q

result of nondisjunction of chromosomes during
the anaphase stage in meiosis of germ cells or in mitosis at the zygote

A

heteroploidy

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38
Q

heteroploidy results to, ____, which is the presence of two or more population of cells with different
genotypes

A

mosaicism

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39
Q

In ruminants, fraternal twinning results to the presence of different
genotypes in cell population of one twin in a condition known as

A

chimerism (due to fetal sharing of circulation)

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40
Q

example of chimerism

A

freemartin

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41
Q

In humans, defects in sex chromosome number are called

A

gonadal dysgenesis

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42
Q

gonadal dysgenesis examples

A
  1. Turner’s syndrome (45, 0X)
  2. Klinefelter’s syndrome (47, XXY)
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43
Q

fragment of chromosomes becomes attached to another chromosome

A

translocation

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44
Q

parts of the chromosome exchange places with another

A

reciprocal translocation

45
Q

example of translocation in humans

A

Down syndrome

46
Q

two breaks occurs and a realignment result to a reversal of the order of
the chromosome

A

inversion of chromosome

47
Q

defect is governed by the additive effect of two or more genes of small effect but is conditioned by non-genetic environmental influences and is expressed

A

polygenic inheritance

48
Q

One of the best-studied diseases due to polygenic inheritance

A

diabetes

49
Q

defect where there is a deficiency of insulin, and therefore there occur persistent hyperglycemia

A

diabetes mellitus

50
Q

study of congenital malformations

A

teratology

51
Q

malformation acquired in utero when differentiating cells are destroyed or altered by agents known as

A

teratogens

52
Q

agents that affect developing cells and tissue altering its structure, genetic constitution, or both

A

teratogens

53
Q

includes trauma, ionizing radiation, heat, cold and
pressure

A

physical agents

54
Q

includes drugs, chemicals, hormones, vaccines,
toxins and toxicant

A

chemical agents

55
Q

metazoan, bacteria, fungi, protozoan, including
viruses

A

biological agents

56
Q

teratogenic agent that causes Amelia (absence of limbs) in affected humans

A

thalidomide

57
Q

twin joined at some portions of the body, with both twins presenting complete parts

A

symmetrical conjoined twin

58
Q

named by the anatomic location of union, and carry the suffix “pagus”

A

Symmetrical conjoined twins (also called
Siamese twins)

59
Q

basic mechanism for symmetrical conjoined twin formation

A

splitting of the zygote
resulting to two blastoderms developing from a single ovum

60
Q

joined at the thorax

A

thoracopagus

61
Q

joined at the ilium of pelvis

A

Ileopagus

62
Q

joined at ischium of pelvis

A

ischiopagus

63
Q

Examples of symmetrical conjoined twin

A
  1. Thoracopagus
  2. Ileopagus
  3. Ischiopagus
64
Q

twins joined in some portions of the body, but one twin may be incompletely developed

A

asymmetrical conjoined twins

65
Q

malformation is a result of
problems in placental circulation with compression of umbilical vessels of one of the twins

A

Asymmetrical conjoined twins

66
Q

attached malformed part of the twin is called

A

parasite

67
Q

a twin presented without body form and heart

A

acardius amorphous

68
Q

acardius amorphous is an example of

A

Asymmetrical conjoined twins

69
Q

a conjoined twin presenting two distinct bodies, united to a common point, but one of the twins is incompletely developed

A

duplication of parts

70
Q

What causes duplication of parts?

A

Mechanical constriction of the blastula or gastrula

71
Q

Examples of duplication of parts

A
  1. Dicephalus monster (2 heads)
  2. Dipygus monster (2 hind parts)
72
Q

imperfect closure of vertebra

A

spina bifida

73
Q

failure of the brain to develop

A

anencephaly

74
Q

imperfect closure of the cranium

A

cranioschisis

75
Q

brain tissue protrudes in a hole of the skull

A

cephalocele

76
Q

cerebrospinal fluid is produced but not drained

A

hydrocephalus

77
Q

complete failure of the spinal cord development

A

amyelia

78
Q

dilatation of the central spinal canal

A

hydromyelia

79
Q

cavitations of the spinal cord

A

syringomyelia

80
Q

palatoschisis

A

open palate

81
Q

chieloschisis

A

slit upper lip

82
Q

nasoschisis

A

split nose

83
Q

a developmental defect of
frontal and nasal bones with two eyes developing in one socket

A

cyclopia or cebocephalia

84
Q

failure of the facial structures to develop

A

aprosopus

85
Q

absence of lower jaw

A

agnathia

86
Q

very small jaw

A

micrognathia

87
Q

strangulation of the developing limb with umbilical vessels leading to amputation or fusion

A

abnormalities in hind limb

88
Q

failure of limb development

A

sympodia

89
Q

fused hindlimbs

A

symelia

90
Q

thorachoschisis

A

sternal fissure

91
Q

omphaloschisis

A

opening at umbilicus

92
Q

gastroschisis

A

opened walls of stomach

93
Q

incomplete development of ventral body walls where affected animals show exposed visceral organs

A

schistosomus reflexus

94
Q

a female born co-twin to
a male that have altered gonadal development due to blood exchanges in utero

A

intersex or hermaphroditism

95
Q

failure of cartilage formation and subsequent improper ossification
resulting to short limbs

A

achondrodysplasia

96
Q

skeleton is missing or failed to develop

A

chondrodystrophia

97
Q

abnormal mixtures of tissues indigenous to their location

A

hamartomas

98
Q

consist of tissues that are foreign to the area

A

teratoma

99
Q

disease in which an animal is born with flexed, absolutely rigid limbs but this is a primary problem not with bones or joints but rather with innervation of muscles because of dysraphism in the spinal cord

A

arthrogryposis

100
Q

Defects in Skeletogenesis

A
  1. achondrodysplasia
  2. chondrodystrophia
101
Q

Abnormalities in Tissues or Organs

A
  1. foramen ovale in the heart
  2. atresia ani (no anal opening)
  3. intersex or hermaphroditism
102
Q

Defects in Ventral Body Walls

A
  1. thoracoschisis
  2. omphaloschisis
  3. gastroschisis
  4. schistosomus
103
Q

Abnormalities in Hind Limbs

A
  1. sympodia
  2. symelia
104
Q

Some structures fail to fuse at median plane:

A
  1. palatoschisis
  2. chieloschisis
  3. nasoschisis
105
Q

defects in the development of the jaws

A
  1. agnathia
  2. micrognathia
106
Q

often implicated in cases of
congenital malformation

A
  1. Drugs
  2. Viruses
  3. Plant toxins
107
Q

cells in the developing fetus
are most susceptible to the adverse effects of teratogens during

A

Cellular differentiation and organogenesis

108
Q

Plant toxins proven to cause malformations

A
  1. Coniine and gamma coniceine
  2. Nicotine
  3. Undefined alkaloid of Veratrum Californicum

b.PATHOLOGY FINALS / Embryology (15 decks)

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