Autosomal Aberrations made by CRISTOBAL, Erica Joyce B. and JARABE, Renee Beatriz P. AAPD2B

1. AUTOSOMAL
Aberrations
CRISTOBAL, Erica Joyce B.
JARABE, Renee Beatriz P.
AAPD2B

2. UNIT V. Human Chromosomes and
Chromosome Behavior
OBJECTIVES
At the end of the unit, the students should be able to:
1. Understand the importance of human karyotyping
2. Characterize individuals with sex chromosome
aberrations
3. Differentiate the types of autosomal aberrations,
and
4. Illustrate and explain the different structural
abnormalities

3. CHROMOSOMAL ABERRATIONS /
ABNORMALITIES
***
*It is the disruptions in the normal
chromosomal content of a cell.
*Originates as a result of an error
during meiosis (Non-Disjunction),
specifically in ANAPHASE stage.
***

4. Wolf-Hirschhorn Syndrome

5. DELETION of the short arm of
chromosome 4.
Physical Characteristics:
*Short Philtrum
*Immunodeficient
*Microcephaly (Small Head Size)
*Seizures
*Muscle Hypotonia
*Renal Anomalies
*Deafness

6. Cri du chat

7. DELETION on the short arm of
chromosome 5.
Cries like a CAT.
Physical Characteristics:
*Excessive Drooling
*Behavioral Problems
*Often Mental Retarded
*Exhibits Gastorintestinal and
Cardiac Complications
*Abnormal Development of
Larynx and Glottis

8. Jacobsen’s syndrome

9. is a condition caused by the DELETION of
a terminal region of chromosome 11.
Physical Characteristics:
*Bleeding Disorder
*Heart Defects
*Wide Set Eyes
*Low Ser Misshapen Ears
*Large Toes

10. Pallister-killian syndrome

11. TETRASOMY in the smaller arm of
chromosome 12.
2n+2 or 48 chromosomes
Physical Characteristics:
*Hypo/Hyper Pigmentation
*Epilepsy
*High Foreheads
*Flat nose
*Supernumerary Nipples
*Psychomotor Retardation

12. Patau syndrome

13. TRISOMIC in the chromosome
13.
47 chromosomes
Physical Characteristics:
*Polydactyl
*Cleft Palate
*Cutis aplasia
*Kidney Failures

14. IDIC 15
(Isodi Centic 15)

15. With extra genetic material in
chromosome 15.
47 chromosomes
Physical Characteristics:
*Epicanthal Folds in the Eye
*Short Stature
*Delayed Language Development
*Seizures
*Some are Mentally Retarded

16. Edward’s syndrome

17. TRISOMY 18.
Physical Characteristics:
*Upturned Nose
*Kidney Malformations
*Omphalocele
*Arthrogryposis
*Microcephaly
*Underdeveloped Phalanges

18. Down Syndrome

19. With extra genetic material in
chromosome 15.
47 chromosomes
Physical Characteristics:
*Epicanthal Folds in the Eye
*Short Stature
*Delayed Language Development
*Seizures
*Some are Mentally Retarded

20. Cat eye syndrome

21. TRISOMY/TETRASOMY 22.
Physical Characteristics:
*Iris Coloboma
*Slant Opening of the Eyelids
*Abnormal Obstruction of the Anus
*Scoliosis
*Hernias