Presentation of:

Molecular Biology and Genetics

Presented by: Rai Naeem
Topic : abnormities (syndrome) of
Chromosomes
Presented to: Mam Mutashira
Chromosome aberration(defect)
• Sutural Changes
1. Deletion
2. Inversion
3. Translocation
4. depletion
• Chromosome Number
1. Aneuploidy
2. Monosomy
3. Nulsomy
4. Trisomy
5. Tetrasomy
• Sutural Changes
Sutural changes, also known as structural changes or abnormalities, can
occur in chromosomes due to various factors such as errors in DNA
replication, exposure to radiation or certain chemicals, or genetic mutations.
These changes can lead to chromosome defects, which may manifest in a
variety of ways depending on the specific alteration and which
chromosome(s) are affected
1.Deletion
Portions of a chromosome are missing or deleted. This can
lead to genetic disorders if important genes are affected by the
deletion
Types of deletion syndrome
1. Cri-du-chat Syndrome (5p- Syndrome):
Caused by a deletion on the short arm of chromosome 5 (5p-).
Characterized by a distinctive high-pitched cry resembling a cat (cri-du-
chat), intellectual disability, microcephaly, facial abnormalities, and
developmental delays.
2. Prader-Willi Syndrome:
Typically caused by the deletion of a region on the long arm of
chromosome 15 (15q11-q13).
Symptoms include hypotonia (low muscle tone) in infancy, feeding
difficulties, excessive appetite leading to obesity, developmental delays,
intellectual disability, and behavioral problems.
3. Angelman Syndrome:
Also associated with deletions on the long arm of chromosome 15
(15q11-q13), but from the maternal allele.
Symptoms include developmental delays, intellectual disability, severe
speech impairment, ataxia (lack of muscle coordination), seizures, and a
happy, excitable demeanor.
Types of deletion
syndrome
Wolf-Hirschhorn Syndrome:
Caused by a deletion on the short arm of
chromosome 4 (4p-).
Features include distinctive facial features, growth
delay, intellectual disability, seizures, heart defects,
and skeletal abnormalities.
Williams Syndrome:
Results from a deletion on chromosome 7 (7q11.23).
Symptoms include characteristic facial features,
cardiovascular problems (such as supravalvular
aortic stenosis), intellectual disability,
developmental delays, and a highly sociable
personality
2. Duplications:
Sections of a chromosome are duplicated, resulting in extra copies of
certain genes. This can cause genetic disorders by
disrupting normal gene dosage

Duplication 15q Syndrome (Isodicentric 15 or Idic15):

This syndrome involves an extra copy of the long arm (q arm) of
chromosome 15, Common features include developmental delays,
seizures, hypotonia (low muscle tone), and characteristic facial
features.
Pallister-Killian Syndrome:
Caused by the presence of an extra isochromosome 12p, which is an
abnormal chromosome composed of two copies of the short arm (p
arm) of chromosome 12.Features may include intellectual disability,.
Duplication 17p Syndrome (17p11.2 Duplication Syndrome):
Involves an extra copy of a region on the short arm (p arm) of
chromosome 17, specifically the 17p11.2 region.
Symptoms can include intellectual disability, developmental delays
Potocki-Lupski Syndrome (PTLS):
Caused by a duplication of a segment of the short arm (p arm) of
chromosome 17 (17p11.2).developmental delays.
Duplication 22q11.2 Syndrome:
Involves an extra copy of a segment on the long arm (q arm) of
3. Inversions:
A segment of a chromosome breaks off, flips around, and reattaches
in the
opposite orientation. This can potentially disrupt gene function or
regulation.

Pericentric Inversions:
Pericentric inversions involve a segment of the chromosome that
includes the centromere. This means that the inversion occurs on both
arms (p and q) of the chromosome.
Paracentric Inversions:
Paracentric inversions involve a segment of the chromosome that does
not include the centromere. This means that the inversion occurs on only
one arm (either p or q) of the chromosome.
Inversion 16 Syndrome:
Inversion 16, also known as inv(16)(p13q22), is a chromosomal
abnormality commonly associated with acute myeloid leukemia (AML).
In this syndrome, a segment of chromosome 16 undergoes an inversion,
leading to the disruption of genes involved in hematopoiesis (the
formation of blood cells). This disruption can result in the development of
AML
Translocations:
Segments of chromosomes break off and reattach to a different
chromosome. Depending on the genes involved, translocations can lead
to genetic disorders or cancer.

Reciprocal Translocations:
In reciprocal translocations, segments of two different chromosomes exchange
places. This means that a piece of one chromosome is swapped with a piece of
another chromosome. Reciprocal translocations can occur between any two
chromosomes and can involve either whole arms or smaller segments.
Robertsonian Translocations:
Robertsonian translocations involve the fusion of two acrocentric chromosomes
(chromosomes with the centromere located near one end) at their short arms. In
this type of translocation, the long arms of the chromosomes are typically lost,
resulting in a single, larger chromosome. Robertsonian translocations most
commonly involve chromosomes 13, 14, 15, 21, or 22
Chromosome
Number
Numerical abnormalities are whole chromosomes either
missing from or extra to the normal pair

1. Aneuploidy
Aneuploidy is a condition characterized by an abnormal number
of chromosomes in a cell. Normally, humans have 46
chromosomes arranged in 23 pairs. Aneuploidy occurs when
there is a gain or loss of one or more chromosomes

One of the most well-known examples of aneuploidy is Down

syndrome, which is caused by an extra copy of chromosome
21. Other examples include Turner syndrome (monosomy X),
Klinefelter syndrome (XXY), and trisomy 18 (Edwards
syndrome)
2.
Monosomy
Monosomy is a type of aneuploidy characterized by the loss
of one chromosome in a diploid cell, resulting in a total
chromosome count of 45 instead of the usual 46. Monosomy
can occur in any of the 22 autosomal chromosomes or the
sex chromosomes (X or Y).
One of the most well-known examples of monosomy is Turner
syndrome, also known as 45,X or monosomy X. In Turner syndrome,
individuals typically have only one X chromosome instead of the
usual two (XX), leading to various developmental and physical
abnormalities. Some common features of Turner syndrome include
short stature, webbed neck, heart defects, and infertility
3. Nullisomy
Nullisomy is a type of aneuploidy characterized by the absence of both
members of a homologous chromosome pair in a diploid cell. In other
words, it involves the loss of an entire chromosome pair, resulting in a
total chromosome count of 44 instead of the usual 46 in humans

Nullisomy is extremely rare in humans, and it typically leads to

severe developmental abnormalities. The effects of nullisomy
depend on which chromosome pair is missing and the functions of
the genes located on those chromosomes
4. Trisomy
Trisomy is a type of aneuploidy characterized by the presence of an
extra chromosome in a diploid cell, resulting in a total chromosome
count of 47 instead of the usual 46 in humans. This extra chromosome
can occur in any of the 22 autosomal chromosomes or the sex
chromosomes (X or Y
Trisomy 21 (Down syndrome):
Individuals with Down syndrome have three copies of chromosome 21 instead of
the usual two. Down syndrome is associated with characteristic facial features,
intellectual disability, and an increased risk of certain health problems such as
heart defects, thyroid disorders, and leukemia.
Trisomy 18 (Edwards syndrome):
Trisomy 18 occurs when there is an extra copy of chromosome 18. It
is associated with severe developmental abnormalities and life-
threatening health problems. Many infants with Edwards syndrome
are born with multiple congenital anomalies and have a very high
mortality rate within the first year of life.
Trisomy 13 (Patau syndrome):
Trisomy 13 involves an extra copy of chromosome 13. It is associated with
severe developmental abnormalities, including cleft lip and palate, extra
fingers or toes (polydactyly), heart defects, and brain abnormalities. Infants
with Patau syndrome often have a very short lifespan, with many not surviving
beyond the first few weeks or months of life.
5. Tetrasomy
Tetrasomy is a type of chromosomal abnormality characterized
by the presence of an extra pair of chromosomes in a diploid
cell, resulting in a total chromosome count of 48 instead of the
usual 46 in humans