types of chormal abnormalities project presentation definition and types

types of chormal abnormalities

1. TYPES OF CHROMOSOMAL
ANOMALIES
PRESENTED BY: LYNDEL HOPE POBLACION, ALEASHA ISOLDE QUIMPO, IGI SAAD

2. WHAT ARE CHROMOSOMAL ANOMALIES?
Chromosomal abnormalities
or chromosomal anomalies
are disorders caused by a
missing, extra, or irregular
proportion of chromosomal
DNA.

3. XYYSYNDROME
(JACOBS SYNDROME)
Jacobs Syndrome is caused by an
extra Y chromosome in males
(47,XYY instead of 46,XY), usually
due to an error during sperm
formation.

4. CHARACTERISTICS
•Physical Characteristics: Taller than
average, may have weaker muscle tone
or minor delays in motor skills.
•Effects on Person: Learning and speech
delays, some behavioral issues (like
hyperactivity or difficulty paying
attention), but most live normal lives
without major health problems.

5. Jacobs Syndrome is caused by an
extra Y chromosome in males
(47,XYY instead of 46,XY), usually
due to an error during sperm
formation.
CRI DU CHAT
SYNDROME
Cri du chat or Cry cat syndrome is
caused by a missing piece of
chromosome 5 (deletion on 5p),
typically a random genetic error.

6. CHARACTERISTICS
•Physical Characteristics: Infants have a
high-pitched, cat-like cry, small head, wide-
set eyes, small jaw, and low birth weight.
•Effects on Person: Delayed development,
intellectual disability, speech and motor
difficulties. Behavioral issues (like
hyperactivity) can occur. Supportive care is
often needed throughout life.

7. ANGELMAN SYNDROME
- Angelman syndrome is caused
by missing or faulty genes on
chromosome 15, inherited from
the mother.
- Physical Characteristics: Small
head, wide smile, frequent
laughter, clumsy movements,
and seizures.

8. ANGELMAN SYNDROME
- Effects on Person: Severe
developmental delays, no or
minimal speech, happy
demeanor, movement and
balance problems. Individuals
usually need lifelong care.

9. DIGEORGE
SYNDROME
- DiGeorge Syndrome is
caused by a small missing
piece of chromosome 22
(deletion on 22q11.2), which
typically occurs randomly.
- Physical Characteristics:
Heart defects, cleft palate,
low calcium levels, distinct
facial features like a long face
and hooded eyelids.

10. DIGEORGE
SYNDROME
- DiGeorge Syndrome is
caused by a small missing
piece of chromosome 22
(deletion on 22q11.2), which
typically occurs randomly.
- Physical Characteristics:
Heart defects, cleft palate,
low calcium levels, distinct
facial features like a long face
and hooded eyelids.

11. PRADER-WILLI
SYNDROME
- Prader-Willi syndrome is
caused by missing or non-
functioning genes on
chromosome 15, inherited from
the father.
- Physical Characteristics: Low
muscle tone in infancy, poor
feeding, short stature, small hands
and feet, and insatiable hunger
leading to obesity.

12. PRADER-WILLI
SYNDROME
- Effects on Person:
Intellectual disability, learning
difficulties, overeating (can
cause obesity), and
behavioral issues. Hormone
treatments and weight
management are usually
needed.

13. THANK YOU!