[and its examples]

Groups 6 & 7
11-Fermat
G20 Yap, Siegourny
In deletion, a portion of one
chromosome is _ _ _ _
during cell division.
When this chromosome is passed on to
_ _ _ _ _ _ _ _ _, the result is usually
lethal due to missing genes.
_ _ _ _ _ _ _ _ _ _ happens when females
have an extra X chromosome (XXX).
_ _ _ - _ _ _ _ _ _ _ _ _ _ _ occurs
when pairs of homologous
chromosomes or sister chromatids
fail to separate during meiosis.
__________ ________
is when there is an extra X
chromosome in a male making him
XXY.
[Deletion]
• This is a type of alteration on the number of
genes that result to a lost fragment of a
chromosome.
• This type often causes serious effects on the
growth and development of the person due to
missing genes
 [Deletion]

• Deletion occurs at • Deletion occurs at • Relatively small amount

the end of the the interior of the of deletion
chromosome chromosome
G11 Garcia, Leleina Isabel
• A microdeletion syndrome caused by missing genetic material
on chromosome #4.
• This syndrome was first described by Wolf and Hirschhorn in
1965, who both described a condition associated with a deletion
of the short arm of chromosome 4 (4p).
• The hallmark features of this syndrome are severe
developmental delay, growth delay, intellectual disability,
seizures, and characteristic facial features.
• This syndrome occurs in approximately 1/50,000 live births.
WHS occurs in more females than males at a rate of 2:1.
G8 Ceniza, Sofia Doreen
• Genetic disorder due to loss of function of specific genes
• In infancy, this condition is characterized by weak muscle tone
(hypotonia), feeding difficulties, poor growth, and delayed
development
• Affected individuals develop an insatiable appetite, which leads
to chronic overeating (hyperphagia) and obesity
• Affects an estimated 1 in 10,000 to 30,000 people worldwide
✓Mild to moderate intellectual impairment and learning disabilities
✓ Temper outbursts, stubbornness, and compulsive behavior such as
picking at the skin
✓ Sleep abnormalities
✓ Distinctive facial features
✓ Narrow forehead
✓ Almond-shaped
eyes
✓ Triangular mouth
✓ Short stature
✓ Small hands and
feet
✓ Unusually fair skin
✓ Light-colored hair
✓ Underdeveloped
genitals
• Loss of function of genes in a particular region of chromosome 15,
including small nucleolar RNAs (snoRNAs) and SNRPN (Small
Nuclear Ribonucleoprotein Polypeptide N) which provide
instructions for other RNAs
• Some genes are turned on (active) only on the copy that is
inherited from a person's father (the paternal copy), a
phenomenon called genomic imprinting.
1. Deletion of Paternal Genes In The Prader-willi
Region
• Include OCA2, a pigment responsible for the color of the
eyes, skin, and hair
2. Maternal Uniparental Disomy
• Two chromosomes contributed by the mother
• Primary oocyte, which becomes the egg cell, undergoes
nondisjunction during meiosis I
• Trisomy 15 – zygote with two copies of maternal
chromosome and one copy of paternal chromosome
• SNORD116 cluster – a particular group of
snoRNA that play a major role in causing the
signs and symptoms of Prader-Willi syndrome
• Loss of a gene called OCA2 is associated
with unusually fair skin and light-colored hair
• Most cases of Prader-Willi syndrome are not
inherited, particularly those caused by
a deletion in the paternal chromosome 15 or by
maternal uniparental disomy.
3. MUTATION IN IMPRINTING CENTER
• Imprinting center – a sequence of DNA near Prader-
Willi genes that directs imprinting via sex-specific
methylation
• Both maternal and paternal genes get methylated
(silenced)
• Epimutation – when methylation occurs on the
paternal chromosome even when there is no defect in
the imprinting center
4. TRANSLOCATION
• When two chromosomes swap materials
• Disrupt SNRNP and snoRNA genes, causing them to
get methylated
Angelman
Syndrome
Angelman
Angelman Syndrome
Syndrome
Angelman
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Syndrome
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Angelman
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Angelman
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Angelman
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22q11.2 deletion syndrome

G3 Cabautuan, Aaaniziyah
• It is a disorder caused when a small part of chromosome 22 is
missing. The deletion occurs near the middle of the
chromosome at a location designated q11.2.
• This deletion results in the poor development of several body
systems.
• It affects an estimated 1 in 4,000 people.
• First described in 1968 by the pediatric endocrinologist Angelo
DiGeorge.
Each person has two copies of
chromosome 22, one inherited
from each parent. If a person has
DiGeorge syndrome, one copy of
chromosome 22 is missing a
segment that includes an
estimated 30 to 40 genes. Many
of these genes haven't been
clearly identified and aren't well-
understood. The region of
chromosome 22 that's deleted is
known as 22q11.2.
✓Heart defects
✓Hypoparathyroidism
✓Thymus gland
dysfunction
✓Cleft palate
✓Distinct facial features
✓Learning, behavioral and
mental health problems
✓Autoimmune disorders
✓Other problems
G6 Catalasan, Maria Sophia
Duchenne muscular dystrophy (DMD) is a
genetic disorder characterized by
progressive muscle degeneration and
weakness. It is one of nine types of muscular
dystrophy.

DMD is caused by an absence of dystrophin, a

protein that helps keep muscle cells intact.
Symptom onset is in early childhood, usually
between ages 3 and 5. The disease primarily
affects boys, but in rare cases it can affect
girls.
G9 Co, Katrina Jasmine
• Other names: Autosomal recessive proximal spinal muscular
atrophy/5q spinal muscular atrophy
• SMA is a group of neuromuscular disorder that result in the loss
of motor neutrons and progressive muscle wasting. Arm, leg
and respiratory muscle are generally affected first.
• Leading genetic cause of death of infants.
• Due to a genetic defect in SMN1
gene.
• The SMN1 gene encodes SMN,
protein necessary for motor
neurons. Loss of these, neurons
prevents the sending of signal
between the brain and skeletal
muscles.
• Caused by bialletic deletions in
SMN1 or the mutation of SMN1
gene (deletion of exon 7).
G2 Benzon, Raphaela
• Also known as Monosomy 1p36
• Pronounced as one P three six
• This means that it affects chromosome # 1, the largest human
chromosome. It precisely affects the area on the #1
chromosome that is on a short arm of the chromosome (p arm),
and area 36 is where the missing DNA should be located.
• A genetic condition in which a small amount of genetic material
is missing (deleted) at the tip of the short arm of chromosome 1.
• Affects approximately 1 in 5,000 newborns
• One of the most common terminal deletions in humans
✓Low muscle tone (congenital
hypotonia)
✓Swallowing difficulties (dysphagia)
✓Developmental delay
✓Intellectual disability
✓Congenital malformations
✓Cardiomyopathy
✓Hearing loss
✓Thyroid problems
✓Behavior problems
✓Microcephaly (small head size) combined with
brachycephaly (short head)
✓Deep-set eyes with straight-appearing eyebrows
✓Sunken–appearing face with a broad flat nose and
an elongated area from nose to mouth(philtrum)
✓Pointed chin
✓Low-set ears that are rotated backwards and are
abnormally shaped.
Broad Flat Nose Long Philtrum Pointed Chin Microcephaly

Straight Eyebrows
1. FISH (fluorescent in-situ hybridization)
• Used to detect missing pieces of chromosome material that are too
small to be seen with a microscope during routine chromosome
analysis.

2. Microarray CGH (Comparative Genomic Hybridization)

• Compares a person’s DNA to “control DNA”. The control DNA comes
from a person that doesn’t have a chromosome abnormality.
• Depends on how much of DNA is
missing from the p36 region
• Some researchers now list p36 as p36.1
to p36.3, with p36.3 as the most
amount of DNA missing and having the
worst prognosis (poor, with severe
symptoms)
• Some individuals may have a relative
good prognosis to a poor prognosis
and early death from significant
physical problems.
partial monosomy 11q, 11q deletion syndrome

G5 Caraan, Yana Ysabel

➢ Jacobsen Syndrome is caused by loss of
genetic material from long(q) arm of
chromosome 11.

Chromosome 11
▪ Spans about 135 million DNA base pairs
(4 to 4.5% of total DNA)
▪ Likely to contain 1300 to 1400 genes that
provide instructions for making proteins
that perform variety of roles in the body

➢ Occurs in about 1 in 100,000 newborns

Karyotype of a female person who has Jacobsen syndrome
• Most cases of Jacobsen syndrome are not inherited; occur as a
random event during the formation of reproductive cells (eggs
or sperm) or in early fetal development
• Only 5 to 10 percent of cases occur when a child inherits the
disorder from an unaffected parent
• If inherited, parents have slightly higher risk of having another
child with condition
• Girls are twice likely to develop this than boys
• Delayed development of speech and motor skills
• Cognitive impairment and learning difficulties
• Behavioral problems (compulsive behavior, ADHD, autism
spectrum disorders)
• A bleeding disorder called paris-trousseau syndrome
• Can include congenital heart defects, feeding difficulties in
infancy, short stature, frequent ear and sinus infections, skeletal
abnormalities, problems with vision (eye disorders), hormones and
the immune system (immunodeficient)
• The disorder can also affect the digestive system, kidneys, and
genitalia
✓Distinctive facial features
✓Small and low-set ears, widely set
eyes (hypertelorism) with droopy
eyelids (ptosis)
✓Skin folds covering the inner corner
of the eyes (epicanthic folds)
✓ Broad nasal bridge
✓Downturned corners of the mouth, a
thin upper lip, and a small lower jaw,
a large head size (macrocephaly)
✓Skull abnormality called
trigonocephaly; gives the forehead a
pointed appearance
G15 Morales, Jessica Anne
• It affects growth and development in females. Women
and girls with this syndrome usually have short
stature.
• Most females experience early loss of ovarian
function. The egg cells usually die prematurely and
most ovarian tissue degenerates before birth
• Most are also unable to conceive or become infertile.
• Affects 1 in 2,500 newborn girls worldwide, but it is
much more common among pregnancies that do not
survive to term such as miscarriages and stillbirths.
• Extra folds of skin on the neck,
a low hairline at the back of the
neck, puffiness or swelling
(lymphadema) of the hands and
feet, skeletal abnormalities, or
kidney problems, and heart defects.
• Most girls and women with Turner
syndrome have normal intelligence,
although developmental delays,
nonverbal learning disabilities, and
behavioral problems are possible.
• Turner syndrome results when one normal X chromosome is
present in a female's cells and the other sex chromosome is
missing or structurally altered. The missing genetic material
affects development before and after birth. (Monosomy X)
• The loss of the SHOX gene that is important for bone
development and growth likely causes short stature and
skeletal abnormalities in women with Turner syndrome.
B23 Verdera, Carl Justin
• A condition that results when an end of the p arm
of chromosome 3 gets deleted.
• This chromosomal change often leads to
intellectual disability, developmental delay, and
abnormal physical features.
• A rare disorder; at least 30 cases have been
described in the scientific literature.
✓ Developmental delay ✓ Seizures
✓ Intellectual disability ✓ Hearing loss
✓ Autism Spectrum ✓ Congenital heart
Disorder defects
✓ Low birth weight ✓ Scoliosis or other
✓ Feeding problems skeletal problems
✓ Hypotonia ✓ Kidney problems
✓ Genital abnormalities
✓ Distinctive craniofacial features
○ Micrognathia (small jaw)
○ Microcephaly (small head)
○ Ptosis (droopy eyelids)
○ Malformed ears or nose
○ Hypertelorism (widely spaced eyes)
○ Epicanthal folds
○ Polydactyly (extra fingers and toes)
• Karyotype - a laboratory test that produces an
image of a person's chromosomes.
• FISH - a laboratory technique that is used to
detect and locate a specific DNA sequence on a
chromosome.
• Array CGH - a technology that detects deletions
that are too small to be seen on karyotype.
• Most cases of 3p deletion
syndrome are not inherited.

• Treatment for this syndrome

varies based on the signs
and symptoms present per
person.
[have a great day !