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, is a 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 is the heritable condition
of possessing more than two
complete sets of chromosomes
• POLYPLOIDY

13. The term "monosomy" is used to describe the
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
is a 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 help 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 examine the internal
structure

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

27. Amniocentesis
Is a 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 amniotic fluid,
the fluid that surrounds the baby in the
womb (uterus).

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

29. PATTERNS
OF
OF
INHERITANCE

31. Patterns of inheritance
There are SIX basic modes of inheritance
For single-gene diseases:
1. autosomal dominant,
2. autosomal recessive,
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. Autosomal dominant inheritance
( meaning of dominant more powerful of
chromosomes individual to maintain the gens
abnormility )
Is a 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. Autosomal dominant 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
Marfan syndrome an inherited disorder
that affects connective tissue are two
examples of autosomal dominant disorders.

34. 2. Autosomal recessive inheritance
Is a 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
Refers to genetic 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 to genetic 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 to genetic 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 to a 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. Mendelian inheritance 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 Punnett square ( 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.