DEVELOPMENTAL MALFORMATION 8 Flashcards

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
Q

where the fragment
becomes attached to another chromosome.

A

translocation

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21
Q

parts of the
chromosome exchange places with another and is called

A

Reciprocal translocation

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22
Q

A typical example of translocation was that observed in

A

Down syndrome

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23
Q

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

A

inversion of chromosome

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24
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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25
Q

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

A

teratology

26
Q

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

A

Symmetrical conjoined twin

26
Q

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

A

teratogens

26
Q

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

A

Teratogens

26
Q

Symmetrical conjoined twins (also called

A

Siamese twins

27
Q

(joined at the thorax)

A

thoracopagus

28
Q

(joined at the ilium of pelvis),

A

Ileopagus

29
Q

(joined at ischium of pelvis).

A

Ischiopagus

30
Q

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

A

Asymmetrical conjoined twins

31
Q

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

A
32
Q

The attached malformed part of the twin is called a

A

parasite

33
Q

An
example is that of

A

acardius amorphous,
a twin presented without body form and
heart

34
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

35
Q

Mechanical constriction of the blastula or gastrula causes this malformation

A
35
Q

with two heads

A

dicephalus monster

36
Q

– imperfect closure of vertebra

A

Spina bifida

36
Q

(with two hind parts).

A

dipygus monster

37
Q

– failure of the brain to develop

A

Anencephaly

38
Q

– imperfect closure of the cranium

A

Cranioschisis

39
Q

– brain tissue protrudes in a hole of the skull

A

Cephalocele

40
Q

cerebrospinal fluid is produced but not drained

A

Hydrocephalus

41
Q

complete failure of the spinal cord development

A

Amyelia

42
Q

– dilatation of the central spinal canal

A

Hydromyelia

43
Q

cavitations of the spinal cord

A

Syringomyelia

44
Q

Defects in Head and Neck

A
45
Q

– split nose

A

nasoschisis

45
Q

open palate

A

palatoschisis

45
Q

slit upper lip;

A

chieloschisis

46
Q

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

A

cyclopia

47
Q

absence of lower jaw,

A

agnathia

47
Q

failure of the facial structures to develop

A

aprosopus

48
Q

very small jaw)

A

micrognathia

48
Q

Abnormalities in Hind Limbs

A
49
Q

failure of limb
development

A

sympodia

50
Q

Abnormalities in Tissues or Organs

A
51
Q

– fused hindlimbs

A

symelia

52
Q

(no anal opening)

A

atresia ani

53
Q

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

A

intersex

54
Q

Defects in Skeletogenesis

A
55
Q

where the skeleton is missing or failed to develop

A

chondrodystrophia foetalis

55
Q

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

A

achondrodysplasia

55
Q

are abnormal mixtures of tissues indigenous to their location

A

Hamartomas

55
Q

example is nevus or mole; angioma and some lipoma

A
56
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 ratherwith
innervation of muscles because of dysraphism in the spinal cord.

A

Arthrogryposis