Abnormalities in Chromosomal Structure

-This occur when a part of an individual

chromosome is missing, extra, switched to
another chromosome, or turned upside.
Chromosomal abnormalities can occur
when the egg or sperm cells is formed or
during the early development stages of the
fetus.
 Patau Syndrome (Trisomy 13)
-Is a chromosomal abnormality in which a patient had an additional in
13th chromosome due to non-disjunction of chromosomes during
meiosis.
Features of Patau Syndrome
• Mental deficiency • Malformed of ears
• Low birth weight
• Congenital heart defects
• Abnormal development of frontal
• Renal tract anomalies
lobe
• Microphthalmia
• Kidney defects
• Bilateral cleft lip/palate
• Absence of corpus callosum
• Polydactyly with rudimentary
• Hypoplasia of cerebellum
digits
• Sloping forehead
• Rockers-bottom heel
• Scalp defects
Patau Syndrome
Edwards Syndrome (Trisomy 18)
-It is an genetic disorder in which a patient had an additional in 18th
chromosome due to non-disjunction of chromosomes during meiotic.

Features of Edward
Syndrome • Shield Chest
• Mental deficiency • Short and prominent sternum
• Growth retardation • Wide set of nipples
• Webbing of neck • Occiput, or the back skull is
• Small mouth prominent
• Small Jaw • Dysplastic or malformed ears
• Clenched hands with overlapping
• Short neck
fingers
Edwards Syndrome
Down Syndrome (Trisomy 21)
Is a chromosomal abnormality in which a patient had an extra copy in 21th
chromosome.

Features of Down Syndrome

• Stockier Build • Single palmer crease
• Severe mental deficiency with • Short fifth finger that
decline in the IQ with age curves inward
• Muscle tone • Widely seperated first and
• Asymetrical skull second toes and
• Flattened nose and face increased skin creases
• Slanting Eyes
• Mild to moderate mental
retardation
Down Syndrome
Cri Du Chat

- It is also known as 5p- (5p minus) syndrome or cat cry syndrome,

is a genetic condition present from birth that is caused by the
deletion of genetic material on the small arm (the p arm) of
chromosome 5. Infants with this condition often have a high-
pitched cry that sounds like a cat.
Cri Du Chat
Wolf-Hirschhorn Syndrome

-It is caused by the deletion of the short arm of the

4th chromosome.
Features of Wolf-Hirschhorn Syndrome
• Short philtrum
• Immunodeficient
• Microcephaly (Small head size)
• Seizures
• Muscle Hypotonia
• Renal anomalies
• Deafness
Wolf-Hirschhorn Syndrome
Langer-Giedion

-It is caused by the deletion or mutation of atleast two genes on

chromosome 8.
-It is a condition that causes bone abnormalities and distinctive
facial features.

Features of Langer-Giedion
• Sparse scalp hair
• Rounded nose
• Long flat area between the nose and the upper lip
(philtrum)
• Thin upper lip
• Loose skin in childhood
Langer-Giedion
Jacobsen Syndrome
-It is also called terminal 11q delition disorder.
Those affected have normal intelligence or mild
mental retardation, with poor or excessive
language skills. Most have a bleeding disorder
called Paris-Trousse syndrome.
Jacobsen Syndrome
 Klinefelter's Syndrome (XXY)
-
-Is the set of symptoms that results from two or more X
chromosomes in males. The primary features are infertility and
small testicles. Men with this condition are usually sterile and
tend to have longer arms and legs and to be taller than their
peer. They are often shy and quiet and have a higher incidence
of speech delay.
Klinefelter's
Syndrome
(XXY)
Turner's Syndrome

-It is a condition in which a female is partly or completely missing

an X chromosome. Signs and symptoms vary among those
affected. Often a short and webbed neck, low-set ears, low
hairline at the back of the neck, short stature and swollen hands
and feet are seen at birth. Typically, they develop menstrual
periods and breasts only with hormone treatment, and are unable
to have children without the help of reproductive technologies.
Turner's Syndrome