chromosomal aberrations pattern of inheritance OM VERMA 2023.pdf

OM VERMA
ASSOCIATE PROFESSOR
GRACIOUS COLLEGE OF NURSING ABHANPUR RAIPUR C.G

1. GRACIOUS COLLEGE OF NURSING ABHANPUR
RAIPUR
CHROMOSOMAL ABERRATION PATTERNS
OF INHERITANCE
MENDLIAN THEORY OF INHERITANCE MENDLIAN THEORY OF INHERITANCE
PRESENTED BY
OM VERMA
ASSISTANT PROFESSOR

4. According to William S.Klug

5. A chromosomal abnormality, or
chromosomal aberration, isa disorder
characterized by a morphological or
numerical alteration in single or
multiple chromosomes, affecting multiple chromosomes, affecting
autosomes, sex chromosomes, or both.
According to Michael R.

6. TYPES
OF OF
CROMOSOMAL ABERRATION

8. NUMERICAL
CHROMOSOMAL
ABERRATIONS ABERRATIONS

10. 4. MOSAICISM

12. Polyploidy isthe heritable condition
of possessing more than two
complete sets of chromosomes
•POLYPLOIDY

13. The term "monosomy" is used to describethe
absence of one member of a pair of chromosomes .
Therefore, there are 45 chromosomes in each cell of
the body instead of the usual 46.

14. STRUCTURAL ABERRATION ABERRATION

16. 6
.

17. 1. DELETION
LOST LARGE AND SMALL PART OF CHROMOSOME

18. 2. DUPLICATION
CROMOSOMES DUPLICATION AND ETRA COPIES

19. constrictions or
breaks when
chromosomes
3. FRAGILE
CHROMOSOSMES

20. 4. INVERSION
2 break in chromosomes
and Reinserted Turing
4. INVERSION
and Reinserted Turing
around

21. 5.
A ring chromosome
isa circular
structure that occurs
when a
chromosome breaks
in two places and its
broken ends fuse
together.

22. 6.

24. DIAGNOSIS
OF CHROMOSOMAL CHROMOSOMAL
ABERRATION

25. 1. Ultrasound
2.Fetal echocardiography(echo) uses sound waves to check
the heart of your developing baby. Fetal echo can h elp find heart
defects before birth .
3.Radiographic Testing(RT) is a non-destructive testing (NDT)
method which uses either x-rays or gamma rays to ex amine the internal
structure

26. 4. screening test –Measuring maternal
serum alpha-fetoprotein
other invasive
Embryoscopyis the direct visualization of
the embryo between 5 and 8 weeks'
fetal tissue biopsy for prenatal diagnosis
Chorionic villussampling (CVS), or chorionic villusb iopsy, is
a prenatal test that involves taking a sample of ti ssue from
the placenta to test for chromosomal abnormalities and
certain other genetic problems.

27. Amniocentesis
Isa test may be offered during pregnancy
to check if baby has a genetic or
chromosomal condition, such as Down's chromosomal condition, such as Down's syndrome, Edwards' syndrome or Patau's
syndrome. It involves removing and testing
a small sample of cells from amnioticfluid,
the fluid that surrounds the baby in the
womb (uterus).

28. Cordocentesis,
also sometimes called
PercutaneousUmbilical Cord Blood
Sampling, is a test that examines blood from
the fetus to detect fetal abnormalities.

29. PATTERNS
OFOF
INHERITANCE

31. Patterns of inheritance There are SIX basic modes of inheritance For single-gene diseases: 1. autosomaldominant,
2. autosomalrecessive,
3. X
-
linked
dominant,
3. X
-
linked
dominant,
4. X-linked recessive, and
5. Y -linked recessive
6. mitochondrial.
Genetic heterogeneity is a common phenomenon with
both single-gene diseases and complex multi-factorial
diseases
.

32. 1. Autosomaldominant inheritance (
meaning of dominant
more powerful of
chromosomes individualto maintain the gens
abnormility)
Isa way a genetic trait or condition can be
passed down from
parent to child
. One copy of
passed down from
parent to child
. One copy of
a mutated (changed) gene from one parent can
cause the genetic condition. A child who has a
parent with the mutated gene has a 50%
chance of inheriting that mutated gene.

33. Autosomaldominant inheritance
Example -
Huntington's disease
inherited disease
that causes the progressive breakdown
(degeneration) of nerve cells in the brain and (degeneration) of nerve cells in the brain and Marfansyndrome
an inherited disorder
that affects connective tissue are two
examples of autosomal dominant disorders .

34. 2. Autosomalrecessive inheritance
Isa way a genetic trait or condition can be
passed down from
parent to child
. A genetic
condition can occur when the child inherits condition can occur when the child inherits one copy of a mutated (changed) gene from each parent.
( two muted copy of parents )
Examples of autosomal recessive disorders
include cystic fibrosis, sickle cell anemia,

35. 3. X-linked dominant inheritance
R
efers togenetic conditions associated
with mutations in genes on the
X
chromosome.
A single copy of the mutation
is enough to cause the disease in both is enough to cause the disease in both males (who have one X chromosome) and
females (who have two X chromosomes).
Only affected girls

36. 4. X-linked recessive inheritance Refers togenetic conditions associated with
mutations in genes on the X chromosome. A male
carrying such a mutation will be affected, because
he carries only one X chromosome. A female he carries only one X chromosome. A female carrying a mutation in one gene, with a normal
gene on the other X chromosome, is generally
unaffected.
( Affected both girls and boys but boys
sever affected )

37. 5. Y-linked inheritance Refers togenetic conditions associated with
mutations in genes on the Y chromosome. A
male carrying
such a mutation will be affected
male carrying
such a mutation will be affected
Y-linked traits never occur in females, and
occur in all male descendants of an affected
male.

38. 6. Mitochondria Refers toa group of disorders that affect the
mitochondria, which are tiny compartments
that are present in almost every cell of the
body. The mitochondria's main function is to body. The mitochondria's main function is to produce energy.
Example-Alzheimer's disease.
Muscular dystrophy. Cancer, diabetes

39. MENDALIAN THEORY OF
INHERITANCE INHERITANCE

40. Mendelianinheritance refers to certain
patterns of how traits are passed from
parents to offspring. These general
patterns were established by the
Austrian monk
Gregor
Mendel, who
Austrian monk
Gregor
Mendel, who
performed thousands of experiments
with pea plants in the 19th century .

42. LAW OF DOMINANCE LAW OF DOMINANCE

43. Mendel's law of dominance states that:
“When parents with pure, contrasting
traits are crossed together, only one
form of trait appears in the next
generation
. The hybrid
offsprings
will
generation
. The hybrid
offsprings
will
exhibit only the dominant trait in the
phenotype.” Law of dominance is known
as the first law of inheritance.

44. Height
Eye
color color

46. LAW OF SEGREGATION LAW OF SEGREGATION

47. During gametes formation When an
organism makes gametes, each gamete
receives just one gene copy, which is selected
randomly. This is known as the law of
segregation. A Punnettsquare( Used for
can be used to predict
genetic cross table)
can be used to predict
genotypes (allele ( gene Variation )
combinations ) and phenotypes (observable
traits) of offspring from genetic crosses.

48. Gametes
ovum

49. LAW OF INDEPENDENT
ASSORTMENT ASSORTMENT

50. Mendel's law of independent
assortment ( classified ) states that the
alleles of two (or more) different genes
get sorted into gametes independently
of one another. In other words, the of one another. In other words, the allele a gamete receives for one gene
does not influence the allele received
for another gene.

51. Genes for the different traits assort
independent of each other during
gamete formation which is selected
randomly
.
randomly
.