CHROMOSOMAL MUTATIONS

The gain or loss of chromosomal material results to Edwards syndrome, a trisomy of

Chromosomal Mutations. The possible effects of chromosome 18.
chromosomal mutations are medical problems, problems on
Symptoms: Mental and motor
growth and development, genetic disorders, and even death.
retardation, and numerous congenital
TYPES OF CHROMOSOMAL MUTATIONS anomalies causing serious health
problems. About 99% die in infancy.
Translocation occurs when a piece of chromosome breaks off Those who live have clenched hands
and attaches to another chromosome. and overlapping fingers.
Deletion refers to the loss of a segment of DNA or chromosome.
An inversion involves the breakage of a chromosome in two Klinefelter’s syndrome (XXY). Men with this condition are
places in which the resulting piece of DNA is reversed and re- usually sterile and tend to have longer arms and legs and to be
inserted into the chromosome. taller than their peers; often shy and quiet and have a higher
Changes that affect the structure of chromosomes can cause incidence of speech delay.
problems with growth, development, and function of the body’s Turner’s syndrome (X instead of XX or YY) Female sexual
systems. These changes can affect many genes along the characteristics are present but underdeveloped. Often have a
chromosome and disrupt the proteins made from these genes. short stature, low hairline, abnormal eye features and bone
Structural changes can occur during the formation of egg or development and a “caved-in” appearance to the chest.
sperm cells in fetal development, or in any cell birth. The effects
of structural depend on their size and location, and whether any
genetic material is gained or lost. Some causes medical
problems and/or genetic disorders, while others may have no
effect on a person’s health.
Examples of genetic disorders: Chromosomes are bundles of tightly coiled DNA located within
“Cri du chat” is caused by the the nucleus of almost every cell in our body.
deletion of part of the short arm of
chromosome 5. Cri du chat is French,
and the condition is so named
because affected babies make high-
pitched cries that sound like a cat.
Have wide-set eyes, a small head and
jaw, are moderately to severely
mentally retarded, and very short.
Down’s syndrome is usually caused
by an extra copy of chromosome 21
(trisomy 21).
Characteristics: decreased muscle Humans have 23 pairs of chromosomes. The first 22 pairs are
tone, stockier build, asymmetrical called autosomes. The 23rd pair of chromosomes are known as
skull, slanting eyes and mild to sex chromosomes, XX for female and XY for male. Sex
moderate mental retardation. chromosome decide if you will be born male or female.

Jacobsen syndrome (terminal 11q deletion disorder) is a very

rare disorder. Those affected have normal intelligence or mild
mental retardation, with poor or excessive language skills. Most
have a bleeding disorder called Paris-Trousseau syndrome.