General Biology
Chromosomal aberrations are alterations in the chromosome structure or
number, which can have significant biological consequences. Here’s a closer
look, including more specific examples of genetic disorders and cancers
associated with different types of aberrations.
2 main types of chromosomal aberration:
1. Structural Chromosomal Aberrations
These aberrations involve changes to the structure of a chromosome and
may include deletions, duplications, inversions, and translocations.
a. Deletion
Description: A portion of the chromosome is lost or deleted. This results in
the loss of genes within that segment.
Examples:
Cri-du-Chat Syndrome: Caused by a deletion on the short arm of
chromosome 5 (5p-). Affected individuals may have a high-pitched cry
resembling a cat, intellectual disability, and distinct facial features.
Williams Syndrome: Caused by a deletion of about 26-28 genes on
chromosome 7q11.23. Symptoms include cardiovascular problems,
developmental delays, and a distinctive personality.
b. Duplication
Description: A portion of the chromosome is duplicated, leading to extra
copies of certain genes.
Examples:
Charcot-Marie-Tooth Disease Type 1A: Often caused by a duplication of the
PMP22 gene on chromosome 17. This disorder affects the peripheral
nerves, leading to muscle weakness, loss of sensation, and foot
deformities.
Pallister-Killian Syndrome: Involves duplications of material from
chromosome 12p. It is associated with intellectual disability, distinctive
facial features, and skin pigmentation differences.
c. Inversion
Description: A section of the chromosome breaks off, flips, and reinserts in
the reverse orientation. Inversions can be pericentric (include the
centromere) or paracentric (do not include the centromere).
Examples:
Hemophilia A: In some cases, caused by an inversion in the F8 gene on the
X chromosome. This inversion disrupts the gene responsible for producing
a blood-clotting protein.
Inv(9)(p11q13): This is a common, benign chromosomal inversion found in
the general population, usually with no clinical symptoms. However,
inversions can sometimes lead to issues in offspring if genetic material is
improperly exchanged during reproduction.
d. Translocation
Description: A segment of one chromosome is transferred to another
chromosome. Translocations can be balanced (no loss or gain of genetic
material) or unbalanced (where material is added or lost).
Examples:
Chronic Myelogenous Leukemia (CML): Caused by a reciprocal
translocation between chromosomes 9 and 22, creating the Philadelphia
chromosome. This leads to the BCR-ABL fusion gene, which causes
uncontrolled cell growth.
Down Syndrome (Translocation Type): In some cases, an individual with
Down syndrome has an extra chromosome 21 material attached to
another chromosome, often chromosome 14. This is a form of
Robertsonian translocation.
2. Numerical Chromosomal Aberrations
These aberrations involve changes in the number of chromosomes and
are typically due to errors during cell division (nondisjunction).
a. Aneuploidy
Description: The presence of an abnormal number of chromosomes (not
a complete set). Common types of aneuploidy include monosomy
(missing one chromosome) and trisomy (an extra chromosome).
Examples:
Down Syndrome (Trisomy 21): Caused by an extra copy of chromosome
21, leading to characteristic facial features, developmental delays, and a
higher risk of certain medical conditions.
Turner Syndrome: Affects females and is caused by the loss of one X
chromosome (45,X instead of 46,XX). Features include short stature,
infertility, and specific physical features.
Klinefelter Syndrome: Affects males with an extra X chromosome (47,XXY).
Symptoms include reduced testosterone levels, delayed or incomplete
puberty, and infertility.
b. Polyploidy
Description: The presence of more than two complete sets of chromosomes.
Polyploidy is common in plants but usually incompatible with life in humans.
Examples:
Triploidy: Individuals have three sets of chromosomes (69 chromosomes
total, 69,XXX or 69,XXY). This condition is generally lethal, and most affected
embryos do not survive to birth.
Tetraploidy: This is an even rarer condition in humans, with four sets of
chromosomes (92 chromosomes total). It is also generally incompatible with
life.
Causes of Chromosomal Aberrations
1. Errors During Cell Division (Nondisjunction): When chromosomes do not
separate correctly during meiosis or mitosis, leading to aneuploidy.
2. Environmental Factors: Exposure to radiation, chemicals, or viral
infections can induce structural aberrations.
3. Inherited Mutations: Some structural abnormalities may be inherited from
a parent, such as translocations that increase the risk of offspring having
genetic disorders.
