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PATHOLOGY > Developmental malformations > Flashcards

Developmental malformations Flashcards

1
Q
  • an individual is said to be unique in every aspect and this is determined by the
    ______ in the chromosome
A

genes

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2
Q
  • is hereditary when the defect of one parent is transmitted in the gametes through the generations
A

defects

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3
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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4
Q

he showed that although some traits are transmitted to generation of offspring in an unchanged state, the physical expression of a trait differed from genetic constitution

A

gregor mendel

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5
Q
  • a 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
  • This alternate form of gene was later called ______, and its transmission outlined
    the concepts of dominance and recessivity
A

allele

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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
  • is the most commonly reported genetic defect in domestic animal species, compared to humans where autosomal dominant inheritance was reported to account for most cases.
A

Autosomal Recessive Inheritance-

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10
Q
  • contains a pair of identical alleles of a given gene,
A

homozygous individual

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11
Q
  • contains different alleles for a given gene.
A

heterozygous individual

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12
Q

if a heterozygous affected animal mates with a homozygous animal; each offspring has 50% risk of being affected

A

Autosomal dominant inheritance

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13
Q
  • Most defects caused by autosomal dominant inheritance exhibit ?
A

distinct phenotypic defects.

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14
Q
  • Cases reported in farm animals that are expressed by autosomal dominant inheritance includ
A
  1. idiopathic epilepsy,
  2. familial convulsion in cattle.
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15
Q
  • The defects reside on either the X chromosome or the Y chromosome of the individual.
A

Sex linked inheritance

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16
Q
  • an individual with possessing only one allele
A

hemizygous

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17
Q
  • In humans the diploid number is 46. In gametes however, the haploid number is 23 and includes one of each pair
A

chromosomal inheritance

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18
Q

chromosomal inheritance occurs in 2 types:

A
  1. numerical abnormality
  2. structural abnormality
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19
Q
  • Abnormalities in the number of chromosomes called “heteroploid”
A

numerical abnormality

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20
Q
  • When an individual is born and carries with its multiples of the haploid number of its
    chromosomes.
A

polyploidy

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21
Q
  • the number may be 69
A

triploidy

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22
Q
  • the number may be 92
A

tetraploidy

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23
Q
  • involves either an increase or decrease in the normal number of chromosomes without regard to completion of the full haploid set. (involved in somatic chromosomes)
A

Aneuploidy

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24
Q
  • If there are three sex chromosomes instead of
    two (e.g.,XXY, or XYY), the condition is called
A

Trisomy

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25
Q
  • if only one sex chromosome occurs (e.g., OX,
    OY), the condition is called
A

monosomy

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26
Q
  • occurs as a 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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27
Q
  • heteroploidy result to?
A
  1. mosaicism
  2. chimerism
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28
Q
  • presence of two or more populations of cells with different genotypes.
A

mosaicism

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29
Q
  • common in fraternal twinning, fetal sharing of circulation results in populations of cells between twins, resulting in the presence of different genotypes in the cell population in one twin
A

chimerism

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30
Q
  • animals, particularly in fraternal twinning (male and female twin) in
A

cattle, sheep & goats

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31
Q
  • In humans, defects in sex chromosome number are called
A

gonadal dysgenesis,

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32
Q
  • could occur at the chromosome and be expressed in the individual.
A

structural abnormalities

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33
Q
  • where the fragment becomes attached to another chromosome.
A

translocation

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34
Q
  • Sometimes, parts of the chromosome exchange places with another and is called
A

reciprocal translocation

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35
Q

________ is observe in humans, there may be chromosomal deletion where a piece of the chromosome is missing,

A

down syndrome

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36
Q

________ where two breaks occur and
a realignment results in a reversal of the order of the chromosome

A

inversion of chromosomes

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37
Q
  • When a 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

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38
Q
  • is a defect where there is a deficiency of insulin, and therefore occurs as persistent hyperglycemia (increased blood sugar levels).
A

diabetes millitus

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39
Q

6 mutant genes of large effects :

A
  1. Autosomal Recessive Inheritance
  2. Autosomal dominant inheritance
  3. Sex linked inheritance
  4. Chromosomal inheritance
  5. Structural abnormalities
  6. Polygenic inheritance
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40
Q
  • involves a seemingly endless list of unrelated syndromes whose causes are to be found in the ambiguous borderland between environment and genetics.
A

congenital defects

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41
Q
  • study of congenital malformations
A

teratology

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42
Q
  • Many are acquired in utero when differentiating cells are destroyed or altered by
    agents known as
A

teratogens

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43
Q

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

A

teratogens

44
Q

As with other causes of disease, teratogens may be grouped under the following categories:

A
  1. physical agents
  2. chemical agents
  3. biological agents
45
Q

Agents often implicated in cases of congenital malformation:

A
  1. drugs
  2. viruses
  3. plant toxins
46
Q

a drug released in the 60’s to relieve nausea during pregnancy in humans is the most studied teratogenic agent that causes Amelia (absence of limbs) in affected humans.

A

thalidomide

47
Q

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

A

Symmetrical conjoined twin

48
Q

Symmetrical conjoined twin is also called _______

A

siamese twins

49
Q

in symmetrical conjoined twin the basic mechanism for their formation is:

A

splitting of the zygote ⇒resulting in two blastoderms developing
from a single ovum.

49
Q

3 plant toxins

A
  1. coniine and gamma coniceine from Conium maculatum
  2. nicotine from Nicotiana tabacum,
  3. undefined alkaloid from Veratrum californicum
50
Q

-joined at the thorax

A

thoracopagus

51
Q
  • joined at the ilium of pelvis
A

ileoopagus

52
Q
  • joined at ischium of pelvis
A

ischiopagus

53
Q

The attached malformed part of the twin is called a ?

A

PARASITE

53
Q

twins joined in some portions of the body, but one twin may be incompletely developed. malformation is a result of problems in placental circulation with
compression of umbilical vessels of one of the twins

A

Asymmetrical conjoined twins

53
Q

a twin presented without body form and
heart.

A

Acardius amorphous

53
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

54
Q
  • mechanism of duplication of parts
A

constriction of the blastula or gastrula causes this malformation.

55
Q

example of duplication:

A

dicephalus monster
dipygus monster

55
Q

with two heads

A

dicephalus monster

55
Q

with two hind parts

A

dipygus monster

56
Q

– imperfect closure of vertebra

A

Spina bifida

57
Q
  • failure of the brain to develop
A

Anencephaly

57
Q

– imperfect closure of the cranium

A

Cranioschisis

58
Q
  • brain tissue protrudes in a hole of the skull
A

Cephalocele

59
Q
A
59
Q
  • cerebrospinal fluid is produced but not drained
A

Hydrocephalus

60
Q
  • dilatation of the central spinal canal
A

hydromyelia

60
Q
  • complete failure of the spinal cord development
A

Amyelia

61
Q
  • cavitations of the spinal cord
A

Syringomyelia

62
Q

structures fail to fuse at median plane:

A

❖ palatoschisis –open palate;
❖ cheiloschisis – slit upper lip;
❖ Cleft nose– split nose

63
Q

Structuters failed to develop

A

❖ cyclopia or cebocephaly
❖ aprosopus .

64
Q

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

A

cyclopia or cebocephaly

65
Q

failure of the facial structures to develop)

A

aprosopus

66
Q

Also included are defects in the development of the jaws

A

❖ agnathia
❖ micrognathia

67
Q

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

A

Abnormalities in Hind Limbs

68
Q

– absence of lower jaw,

A

agnathia

69
Q

– very small jaw

A

micrognathia

70
Q

abnormalities in hind limbs such as:

A

❖ sympodia
❖ symelia

71
Q

– failure of limb development

A

sympodia

72
Q
  • fused hindlimbs.
A

symelia

73
Q

failure of fusion or development of the ventral body wall, includes such defects as:

A

❖ thoracoschisis
❖ omphaloschisis
❖ gastroschisis
❖ schistosomus reflexus

74
Q

– sternal fissure

A

thoracoschisis

75
Q

– opening at umbilicus

A

omphaloschisis

76
Q

opened walls of stomach

A

gastroschisis

77
Q

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

A

schistosomus reflexus

78
Q

Abnormalities in Tissues or Organs, common examples include:

A

❖ persistent foramen ovale in the heart,
❖ Atresia ani
❖ intersex or hermaphroditism

79
Q

no anal opening

A

Atresia ani

80
Q

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

A

intersex or hermaphroditism

81
Q

Includes defects in bone formation such as seen in:

A

❖ Achondroplasia
❖ Chondrodystrophia

82
Q
  • where they occur failure of cartilage formation and subsequent
    improper ossification ⇒ resulting to short limbs
A

Achondroplasia

83
Q
  • fetalis where the skeleton is missing or failed to develop.
A

Chondrodystrophia

84
Q

are abnormal mixtures of tissues indigenous to their location

A

hamartomas

85
Q

example of hamartomas

A

❖ nevus or mole;
❖ Angioma
❖ Lipoma

86
Q

in that the latter consist of tissues that are foreign to the area

A

teratoma

87
Q

is a 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

88
Q

congenital porphyria for what animals?

A

Cattle & pig

89
Q

Familial polycythemia for what speciific animal?

A

cattle

90
Q

Inheretied goitre for ?

A

sheep

91
Q

combine immunodeficiency is for?

A

horse

92
Q

Chediak-Higashi syndrome is for?

A

Cattle & horse

93
Q

atresia ani common in?

A

pig

94
Q

congenital hydrocephalus is for ?

A

cattle

95
Q

cranium bifidum

A

pig

96
Q

Cerebellar hypoplasia is for?

A

cattle

97
Q

Cerebellar atrophy most common in?

A

sheep

98
Q

Congenital tremor for?

A

pig

PATHOLOGY (5 decks)

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