DEVELOPMENTAL MALFORMATION 8 Flashcards

(73 cards)

1
Q

First Law

A

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

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2
Q

. Second Law –

A

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

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3
Q

three modes of genetic defect transmission in animals and
these includes :

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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3
Q

Third Law

A

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

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4
Q

Autosomal recessive inheritance

A

is the most commonly reported
genetic defects in domestic animal species

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5
Q

heterozygous

A

individual contains
different alleles for a given gene

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5
Q

homozygous

A

individual contains a pair
of identical alleles of a given gene

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6
Q

exhibit distinct
phenotypic defect.

A

Autosomal Dominant Inheritance

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7
Q

Abnormalities in the number of chromosomes are called

A

heteroploidy

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7
Q

hemizygous

A

(an individual with possessing only one allele)

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7
Q

farm animals that are expressed by autosomal dominant inheritance include :

A
  1. idiopathic epilepsy
  2. familial convulsion in cattle.
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8
Q

With chromosomal abnormalities, there occur two
types:

A

numerical abnormality, and structural abnormality

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9
Q

heteroploidy and
involves either

A

polyploidy or aneuploidy

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10
Q

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

A

Polyploidy

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11
Q

the number may be 69

A

triploidy

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12
Q

92

A

tetraploidy

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13
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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14
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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15
Q

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

A

monosomy

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16
Q

occur as a result of nondisjunction of chromosomes during
the anaphase stage in meiosis of germ cells or in mitosis at the zygote, and result
to

A

Heteroploidy

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17
Q

the presence of two or more population of cells with different genotypes.

A
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18
Q

In humans, defects in sex chromosome
number are called

A

gonadal dysgenesis

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18
Q

there are chances that fetal sharing of circulation result
to population of cells between twins, resulting to the presence of different genotypes in cell population of one twin. This condition is called

A

chimerism

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19
Q

gonadal dysgenesis, and examples include :

A

Turner’s syndrome (45, 0X) and Klinefelter’s syndrome (47, XXY).

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20
where the fragment becomes attached to another chromosome.
translocation
21
parts of the chromosome exchange places with another and is called
Reciprocal translocation
22
A typical example of translocation was that observed in
Down syndrome
23
where two breaks occurs and a realignment result to a reversal of the order of the chromosome.
inversion of chromosome
24
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,
polygenic inheritance
25
The study of congenital malformations involves a seemingly endless list of unrelated syndromes whose causes are to be found in the ambiguous borderland between environment and genetics
teratology
26
– a twin joined at some portions of the body, with both twins presenting complete parts.
Symmetrical conjoined twin
26
, many are acquired in utero when differentiating cells are destroyed or altered by agents known as
teratogens
26
are agents that affect developing cells and tissue altering its structure, genetic constitution, or both.
Teratogens
26
Symmetrical conjoined twins (also called
Siamese twins
27
(joined at the thorax)
thoracopagus
28
(joined at the ilium of pelvis),
Ileopagus
29
(joined at ischium of pelvis).
Ischiopagus
30
twins joined in some portions of the body, but one twin may be incompletely developed.
Asymmetrical conjoined twins
31
This malformation is a result of problems in placental circulation with compression of umbilical vessels of one of the twins.
32
The attached malformed part of the twin is called a
parasite
33
An example is that of
acardius amorphous, a twin presented without body form and heart
34
a conjoined twin presenting two distinct bodies, united to a common point, but one of the twins is incompletely developed.
Duplication of parts
35
Mechanical constriction of the blastula or gastrula causes this malformation
35
with two heads
dicephalus monster
36
– imperfect closure of vertebra
Spina bifida
36
(with two hind parts).
dipygus monster
37
– failure of the brain to develop
Anencephaly
38
– imperfect closure of the cranium
Cranioschisis
39
– brain tissue protrudes in a hole of the skull
Cephalocele
40
cerebrospinal fluid is produced but not drained
Hydrocephalus
41
complete failure of the spinal cord development
Amyelia
42
– dilatation of the central spinal canal
Hydromyelia
43
cavitations of the spinal cord
Syringomyelia
44
Defects in Head and Neck
45
– split nose
nasoschisis
45
open palate
palatoschisis
45
slit upper lip;
chieloschisis
46
a developmental defect of frontal and nasal bones with two eyes developing in one socket; a
cyclopia
47
absence of lower jaw,
agnathia
47
failure of the facial structures to develop
aprosopus
48
very small jaw)
micrognathia
48
Abnormalities in Hind Limbs
49
failure of limb development
sympodia
50
Abnormalities in Tissues or Organs
51
– fused hindlimbs
symelia
52
(no anal opening)
atresia ani
53
a female born co-twin to a male that have altered gonadal development due to blood exchanges in utero)
intersex
54
Defects in Skeletogenesis
55
where the skeleton is missing or failed to develop
chondrodystrophia foetalis
55
there occur failure of cartilage formation and subsequent improper ossification resulting to short limbs
achondrodysplasia
55
are abnormal mixtures of tissues indigenous to their location
Hamartomas
55
example is nevus or mole; angioma and some lipoma
56
– 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 ratherwith innervation of muscles because of dysraphism in the spinal cord.
Arthrogryposis