Atypical Chromosome Structure

A chromosome can be structurally atypical in several ways. It may have too much genetic
material, too little, or a stretch of DNA that is inverted or moved and stuck onto a different type of
chromosome. Atypical chromosome are balanced if they have the normal amount of genetic material or
unbalanced if excess or deficient DNA results.

Deletion and Duplication.

Deletions and duplications are missing and extra DNA sequences, respectively. The more genes
involved, the more severe the associated syndrome.

Cri du Chat Syndrome

Cri du Chat is caused by a deletion of chromosome 5p, which is written "5p-."Babies with Cri du Chat
have a high-pitched cry, poor muscle tone, a small head size, and low birth weight. They also have
problems with language, and may express themselves by using a small number of words or sign
language.

Pallister Killian syndrome

Pallister Killian syndrome is a result of extra #12 chromosome material. Babies with this syndrome have
many problems. These include severe intellectual disability, poor muscle tone, "coarse" facial features,
and a prominent forehead. They tend to have a very thin upper lip, with a thicker lower lip and a short
nose. Other health problems include seizures, poor feeding, stiff joints, and cataracts in adulthood,
hearing loss, and heart defects.

Translocation

In a translocation, different (nonhomologous) chromosomes exchange or combine parts.

Translocations can be inherited because they can be present in carriers, who have the normal amount of
genetic material, but it is rearranged.

2 Major types of Translocation

Robertsonian translocation

The short arms of the two different acrocentric chromosomes break, leaving sticky ends on the
two long arms that join, forming a single, large chromosome with two long arms or when one
chromosome becomes attached to another. The tiny short arms are lost, but their DNA sequences are
repeated elsewhere in the genome, so the lost does not symptoms.

Reciprocal Translocation

Two different chromosomes exchange parts. About 1 in 600 people is a carrier for a reciprocal
translocation. Reciprocal translocations do not occur at random among the chromosomes that have
unstable parts. Vulnerable parts of chromosomes arise where the DNA is so symmetrical in sequence
that complementary base pairing occurs within the same DNA strand, folding it into loops and crosses
during DNA replication. These contortions can cause double strand breaks, which enable parts of two
different chromosomes to switch.

A carrier of any type of translocation can produce some unbalanced gametes------ sperm or
oocytes that have deletions or duplications of some of the genes in the translocated chromosomes. The
resulting phenotype depends upon the particular genes that the chromosomal rearrangement disrupts
and whether they are extra or missing.

Some human diseases caused by translocations are: Leukemia, Infertility, Down syndrome
Inversion

An inverted sequence of chromosome bands disrupts important genes and harms health in only
5 to 10 percent of cases. Effects may depend on which genes are involved. Like translocation carrier, an
adult who is heterozygous for an inversion can be healthy, but have reproductive problems.

2 Types of Inversions

Paracentric Inversion

Does not include the centromere

Pericentric Inversion

Includes the centromere within the loop. A cross over in it produces two chromosomes that
have duplications and deletions, but one centromere each.

Inversions usually do not cause any abnormalities in carriers as long as the rearrangement is balanced
with no extra or missing DNA. However, in individuals who are heterozygous for an inversion, there is an
increased production of abnormal chromatids (this occurs when crossing-over occurs within the span of
the inversion). This leads to lowered fertility due to production of unbalanced gametes.

Isochromosome and Ring Chromosomes

Isochromosome- a chromosome that has identical arms. This occurs when, during division, the
centromeres part in the wrong plane. Isochromosomes are known for chromosomes 12 and 21 and for
the long arms of the X and the Y. This is sometimes seen in some females with Turner syndrome or in
tumor cells.
 Ring chromosomes- are chromosomes shaped like rings. Ring chromosomes may arise when
telomeres are lost, leaving sticky ends that adhere. They can form from any chromosome, and may be
one of the 46 chromosome or an extra. Most ring chromosomes consist of DNA repeats and do not
affect health but some do, however. Disorders arising from the formation of a ring chromosome include
ring chromosome 20 syndrome where a ring formed by one copy of chromosome 20 is associated with
epilepsy; ring chromosome 14 and ring chromosome 13 syndrome are associated with mental
retardation.

Ring chromosomes may form in cells following genetic damage by mutagens like radiation, but
they may also arise spontaneously during development.