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Ma Phue Ei Lin 2Bot-4

Ma Soe Wutt Yee Htun 2Bot-10
Ma Su Pyae San 2Bot-75
Mg Su Nandar Han 2Bot-3
Ma Hein Min Tun 2Bot-78
 Titles
Deficiency / Cri-du-chat Syndrome 1
Duplication / Translocation 2
Down Syndrome / Edward Syndrome / Patau Syndrome 3
Polyploid / Aneuploid / Trisomy 4
Monosomic / Nullisomic / Euploid 5
6
 1 Deficiency
 In a chromosome if two breaks occurred and the segment of the chromosome between the two breaks
was lost or delete, it is known as deficiencies.

 Most of the chromosome segment that were loss usually lack of centromere, and were not able to
move to the pole and get lost.

 In Drosophila, a mutant called “ notch ’’produce a notch margin of the wings (one of the sex
chromosome – X chromosome)is lacking one segment of chromosome.

 It is inherited as a sex-linked dominant in the female, but is lethal in the male.

 Such male zygote carrying “notch’’ die, the mutant is perpetuated by breeding females with notch
wings to normal males.
 2 Deficiency

 In individuals heterozygous for a deficiency, one of the two

paired homologous chromosomes is shorter than the other,
and the pairing occurs only between homologous discs.

 The section of the chromosome which contains the discs

missing in the other chromosome forms a buckle or loop.

 Missing in the deficiency must be located in the part of the

chromosome that’s form the buckle ‘n’ the deficiencies
heterozygote.

 The position of certain genes is determined in term of the

chromosome as seen under the microscope.
 3 Cri-du-chat Syndrome

 In human, deletion of short arm on chromosome number 5 give rise the cri-du-chat
syndrome.

 The name ‘cri-du-chat’ is referred to French of ‘cries like a cat’ which sounds similar to
the mewing of a cat.

Some characteristics and features of Cri-du-chat syndrome are

 Cry : The distinctive cat-like cry is typically present at birth but tends to diminish as
the child grows.

 Facial Features : Cri-du-chat syndrome may have distinctive facial features, such as a
small head, widely spaced eyes, low-set ears, and a small jaw.

 Development Delay : Intellectual and development disabilities are common, ranging

from mild to moderate. Speech and motor skills development might be delayed.
 4 Cri-du-chat Syndrome

 Physical Abnormalities : Children with this syndrome can exhibit

various physical abnormalities, including muscle weakness, small
stature, and a wide range of medical issues like heart defects and
kidney problems.

 Other Health Issues : Depending on the severity, individuals with the

syndrome may have a higher risk of various health issues, including
respiratory and gastrointestinal problems.

 Early intervention and supportive care, such as physical therapy,

speech therapy, and special education programs, can help individuals
with Cri-du-chat syndrome reach their full potential and improve their
quality of life.
 5 Duplication

 An extra piece of chromosome ,attached in some manner to one of the members of the regular components or
existing as a fragment chromosome, is known as
duplication.

 When attached to a chromosome in the form of an added section, the duplication may be in piece tandem, in
reverse tandem, or a displaced piece.

 If the duplicated piece is represented by the letters (def) , tandem duplication would be
abcdefdefghi and as a reverse tandem, abcdeffedghi.

 A variety of duplications involving portions of the X chromosome of D. melanogaster, it illustrates the tandem
duplication associated with the well-known phenotype.

 Duplication is more frequent and less to the individual than deficiencies.

 Duplication can be more detected in species such as Drosophila because of the detail structure of salivary
chromosomes.

 In plants, study of meiotic pairing in haploid individual reveals apparently homologous synapsis, which would
presumably point to the presence of duplications.
6 Duplication

Type of Duplication Duplication appear in D . Melanogaster

 7 Translocation

 Translocations are chromosome rearrangements.

 It result from the transfer of segment between two or

more none homologous chromosome.

 Two chromosomes in the same nucleus must sustain that

break at the same time for transfer to occur.

 The two with no centromeres fuse to form acentric

fragment.

 Several translocations have been recongnized.

 The type that is genetically stable is the half translocation

(only half of the broken ends rejoin).

 The unheated segments are lost.

Some tissues of chromosomes undergo
a Breakage-fusion-bridge cycle.
 8 Translocation

 The term translocation is used when the location of specific

chromosome material changes.
 There are two main types of translocations:
reciprocal translocation and Robertsonian.
 In a reciprocal translocation, two different chromosomes have
exchanged segments with each other.
 In Robertsonian translocation, an entire chromosome attaches to
another at the centromere.
 9 Translocation

 The translocation in this example is between chromosomes 14 and 21.

 Translocation in natural populations appears to be more frequent in plants than animals.
 Translocations have been detected in human beings called Down's syndrome and it is caused by trisomy of
chromosome number 21.
 When a baby is born with this type of translocation chromosome in addition to one normal 14 and two normal
21 chromosomes, the baby will have Down syndrome.
 This is also called translocation Down syndrome.
 Translocation heterozygotes regularly produce duplication ,deficiency gametes.
 The detection of chromosomal translocations can be important for the diagnosis of certain genetic diseases
and disorders.
Trisomy 21 ( Down Syndrome )
 3
10 Chromosome Disorder

What is Chromosome disorders??

 Chromosome disorders are abnormalities in the number or structure of chromosomes in an

individual's cells.
 These disorders can result in various physical and developmental issues.

Why Chromosome Disorder occur ???

 Chromosome disorders occur due to abnormalities or errors in the number or structure of

chromosomes.
 These errors can happen during cell division, where chromosomes fail to separate properly,
leading to an uneven distribution of genetic material.
 11 Top 3cases caused by chromosome disorders
(1) Down Syndrome

(2)Edward Syndrome

(3) Patau Syndrome

1.Down Syndrome

 Down syndrome is a genetic condition where a person is born with an

extra copy of chromosome .

 This means that they have a total of 47 chromosomes instead of 46.

 This extra chromosome cause the baby’s body and brain develop,
which can cause both mental and physical challenges for the baby.

 Other health problem are hearing loss , Ear Infections , Eye disease
etc.
 3
12 2 - Edward Syndrome
 Edward Syndrome is a cause of chromosome disorder that has that has 3 copies of chromosome ,in number 18
instead of 2.

The Symptoms of Edward Syndrome are

 low birth weight.

 small head and jaw.
 an unusual-looking face and head.
 unusual hands and feet with overlapping fingers and webbed toes.
 problems with feeding, breathing, seeing and hearing
 13 3 - Patau Syndrome
 Patau Syndrome is a genetic disorder case which a person has 3 copies of chromosome in number 13 , instead of
having 2.

 Babies with Patau's syndrome can have a wide range of health problems.

The Symptoms of Patau Syndrome are

 Cleft lip or cleft palate.

 Difficulty gaining weight.
 Extra fingers or toes
 Ears forming low on the head.
 Growth abnormalities in the arms and legs.
 Low muscle tone (hypotonia).
 Small head and lower jaw.
 Very small, close together or underdeveloped eyes.
 This syndrome is a serious but rare in case
Effect of Patau Syndrome
 14 Polyploid

 Polyploidy refers to a genetic condition in which an

organism has more than two complete sets of
chromosomes.

 This can occur naturally through processes like

non-disjunction during cell division or through
human intervention in breeding and agriculture.
 15 Aneuploid

 Aneuploidy refers to a condition in which an organism's

cells have an abnormal number of chromosomes, either
more or fewer than the usual number for that species.

 It can lead to various genetic disorders and

developmental issues.

 Examples include Down syndrome (trisomy 21) and

Turner syndrome (monosomy X)
 What is difference between diploid, haploid
16
and triploid

 Diploid refers to the number of complete chromosome sets

present in each cell of an organism: diploid cells contain
two complete sets.

 Haploid organisms, on the other hand, only contain one

complete chromosome set while triploid refers to cells or
organisms that have three sets of chromosomes.

 This is important in genetics and can impact an organism's

development and characteristics .

 Chromosome sets can be altered in meiosis, and

occasionally in mitosis.
 17 Trisomy

​
 Trisomy is a genetic condition where an individual has three copies
of a specific chromosome instead of the usual two.

 It's often caused by a random error during cell division and can
lead to various physical and developmental abnormalities,
depending on which chromosome is affected.

 Among abortive, every chromosome has been found to be a

trisomy condition.

 Examples include Down syndrome (trisomy 21) and Edwards

syndrome (trisomy 18).
 18 Trisomy

Trisomy-21 Down Syndrome ( male) Trisomy-18 Edward’s Syndrome (female)

 19 Monosomic
 Monosomic is the condition of having a diploid chromosome in which one
chromosome lack in homologous pair.

 Thus, monosomic defines the state of missing chromosome, and represented

as 2n-1.

 Typically, monosomic condition is lethal, causing spontaneous abortions or

leading to severe developmental abnormalities.

 Turner syndrome and cri du chat syndrome is an example of monosomic

condition.

 Turner syndrome happens when one of the X chromosome is partially or

completely missing.

 Turner syndrome can cause many different symptoms.

 The symptoms may be mild for some people, but for other people, that can
cause serious health problems.

 Cri du chat syndrome also occurs in monosomic caused by the deletion of the
end of the short arm of chromosome 5, resulting in developmental delays.
20 Monosomic
 21 Nullisomic

 Nullisomic is a type of double monosomic condition.

 Unlike monosomic, nullisomic lack both homologous chromosomes

of a specific pair.

 Nullisomic occur due to the genetic crosses, for example- (2n-

2)×(2n-1) can yield nullisomic (2n-2).

 Thus, in nullisomic, two chromosomes are missing and the

chromosomal composition is represented by (2n-2).

 In normal diploid cell, there are two sets of chromosomes one from
each parent, represented as 2n.

 The usefulness of these nullisomic condition is indicated by the

example of wheat.

 This wheat lacked a pair of chromosome permitted the initial

identification of a gene which governs the diploidization of a
hexaploid species.
 22 Euploid

 Euploid means having the right amount of chromosomes

in an organism.

 Its like having all the puzzle pieces to build something

perfect.

 This set can be haploid(mono), diploid, triploid, tetraploid

and so on.

 With the higher multiple members above the diploid state,

referred as polyploidy.

 Tetraploid individual produce diploid gametes and

gametophytes and diploid organism produce haploid
gametes and gametophytes.

 Euploid embryos have much greater chances of successful

pregnancy, and reduced rate of abortion.
‘ Thanks for your attention and time’

Have a nice day !!