1. Chromosomal Abnormalities
Oleh :
Khairatul Insani F. (105090100111031)
Wahyu Kusumayanti Putri (105090102111001)

2. Introduction
• Chromosomes are the strands of genetic material
contained in every cell of living things.
• Function: carry genetic information that determines
the fetal growth and development and bodily
functions
• Normal:
The total of Chromosomes are 46 pairs that consist
of 22 pairs autosome and 1 sex chromosome

3. The Causes of Chromosomal
Abnormalities
Chromosomal abnormalities in the fetus can be
derived from one parent carrying chromosomal
abnormalities, can also occur spontaneously (by itself)
at the time of reproduction. Age of the mother during
pregnancy is also a risk factor for chromosomal
abnormalities. risk of chromosomal abnormalities in
the fetus is 4 times greater if the mother was 35 years
old or older.

4. Genetic Abnormalities
Genetic disorder is a condition caused by
abnormalities of one or more genes that cause a
condition of clinical phenotypes. Some of the causes
of genetic diseases such as: Abnormal number of
chromosomes as in Down's syndrome (an extra
chromosome 21) and Klinefelter syndrome (males
with two X chromosomes)

5. STRUCTURAL CHROMOSOME
Abnormalities
• Deletions are mutations of chromosome deletions in
which most of the chromosome is lost. Deletion causes
loss of genetic material.
• Duplication is a chromosomal mutation in which some
chromosomes are duplicated so that there is an extra
genetic material.

6. • Inversion is a mutation of chromosome inversion
which a portion of the chromosome is broken,
upside down and back connected. Genetic material
to be upside down (inverted).
• Translocation is a mutation of chromosome
translocation in which a portion of one chromosome
is transferred to another chromosome. There are
two types of translocations: reciprocal translocations
and Robertsonian translocation

7. Gene and Chromosomal
Abnormalities

8. Phenylketonuria
• Protein metabolism incomplete
• mental retardation
• hyperactivity

9. Down Syndrome (45A+XY) / (45A+XX)
• Down Syndrome is also called
trisomy 21
• Due to the excess of chromosome
21 as the result of translocation
• Generally have mental retardation,
asymmetrical skull, and short body.

10. Klinefelter Syndrome (44A+XXY)
•Males have an extra X chromosome
•Structure of the chromosomes XXY instead of XY
•Big breasts

11. Turner Syndrome (44 A + X)
• Women lose one X chromosome
• Structure of the chromosomes into XO in exchange
for XX
• Physical abnormalities
• Mental retardation

12. Edward Syndrome (45A+XX/XY)
•addition of one chromosome on autosomal chromosome
pair number 18
•oval skull, a small mouth, ears and lower jaw

13. Anencephaly
• A neural tube disorder that causes brain and
skull defects; most of the children died at birth.

14. Spina Bifida
• Neural tube abnormalities that cause
abnormalities of the spine and brain.