Mary Ann Dinglasan

HUB 42

1. What is the most common cause of abnormal chromosome

number? Give an example of a clinical syndrome involving
abnormal numbers of chromosomes.

Chromosome abnormalities usually happen as a result of

an error in cell division. Meiosis is the name used to describe
the cell division that the egg and sperm undergo when they
are developing. When fertilization occurs, the normal 46 total
number of chromosomes results in the fetus. If meiosis does
not occur properly, an egg or sperm could end up with too
many chromosomes, or not enough chromosomes. In addition
to the cell division, mitosis begins in the fetus after
fertilization.This process repeats itself, until the entire baby is
formed.

Error in mitosis can occur, just like the error previously

described in meiosis. If the chromosomes do not split into
equal halves, the new cells can have an extra chromosome
(47 total) or have a missing chromosome (45 total). This is
another way why chromosome abnormality can occur. As for
the maternal age, the risk for a baby to be born with a
chromosome abnormality increases. This may be attributed to
the aging of the egg cells that causes the incorrect number of
chromosomes at fertilization.

Examples of clinical syndrome involving abnormal numbers of

chromosomes are:
• Down's syndrome or trisomy 21
• Edward's syndrome or trisomy 18
• Patau syndrome or trisomy 13
• Cri du chat syndrome or 5p minus syndrome (partial
deletion of short arm of chromosome 5)
• Wolf-Hirschhorn syndrome or deletion 4p syndrome
• Jacobsen syndrome or 11q deletion disorder
• Klinefelter's syndrome or presence of additional X
chromosome in males
• Turner syndrome or presence of only a single X
chromosome in females
• XYY syndrome and XXX syndrome

2. In addition to numerical abnormalities, what types of

chromosomal alterations occur?

Aside from the abnormalities in numbers of chromosomes,

aberrations can also happen in the structures. Here are the
following examples:

• Deletions: A portion of the chromosome is missing or

deleted. Known disorders in humans include Wolf-
Hirschhorn syndrome, which is caused by partial
deletion of the short arm of chromosome 4; and
Jacobsen syndrome, also called the terminal 11q
deletion disorder.
• Duplications: A portion of the chromosome is
duplicated, resulting in extra genetic material. Known
human disorders include Charcot-Marie-Tooth disease
type 1A, which may be caused by duplication of the
 gene encoding peripheral myelin protein 22 (PMP22)
on chromosome 17.
• Translocations: A portion of one chromosome is
transferred to another chromosome. There are two
main types of translocations:
• Reciprocal translocation: Segments from two different
chromosomes have been exchanged.
• Robertsonian translocation: An entire chromosome has
attached to another at the centromere - in humans
these only occur with chromosomes 13, 14, 15, 21, and
22.
• Inversions: A portion of the chromosome has broken off,
turned upside down, and reattached, therefore the
genetic material is inverted.
• Insertions: A portion of one chromosome has been
deleted from its normal place and inserted into another
chromosome.
• Rings: A portion of a chromosome has broken off and
formed a circle or ring. This can happen with or without
loss of genetic material.
• Isochromosome: Formed by the mirror image copy of a
chromosome segment including the centromere.

Chromosome instability syndromes are a group of

disorders characterized by chromosomal instability and
breakage. They often lead to an increased tendency to
develop certain types of malignancies.

3. What is mosaicism, and how does it occur?

It is the property or state of being composed of cells of two
genetically different types. Mosaicism happens because a
mutation occurs at some point after the zygote is created. In
general, the later in embryonic development that the mutation
occurs, the more restricted in distribution the resulting
phenotype is, because the cells derived from a mutated
founding cell all carry its mutation. Many of the mutations may
be neutral; some may not. They may thus confer some
selective advantage (or disadvantage) to the cell and may
therefore contribute to disease. If the mutation affects cell
growth mechanisms, it may be “self-promoting” in the affected
tissues,favoring (or hindering) expansion of the mutant
population.