Chromosomal Abnormalities

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

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

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.

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)

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.

• 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

Gene and Chromosomal Abnormalities

Phenylketonuria • Protein metabolism incomplete• mental retardation• hyperactivity

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.

Klinefelter Syndrome (44A+XXY)

•Males have an extra X chromosome•Structure of the chromosomes XXY instead of XY•Big breasts

Turner Syndrome (44 A + X)• Women lose one X chromosome• Structure of the chromosomes into XO in exchange

for XX• Physical abnormalities• Mental retardation

Edward Syndrome (45A+XX/XY)

•addition of one chromosome on autosomal chromosome pair number 18•oval skull, a small mouth, ears and lower jaw

Anencephaly

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

Spina Bifida

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