SEX CHROMATIN

DETERMINATION

Every non-egg cell in a womans

body has two X chromosomes:
However, only one of those two Xchromosomes is active during the life
cycle of that cell.
The other becomes inactivated.
There are two different forms of
inactivation
random

Random X-inactivation means that

each X-chromosome has a 50% chance
of being the active chromosome or the
inactive chromosome in that cell.
The selection is completely random.

Therefore, there is a 50% chance that

one of the X will be turned on in the cell
and a 50% chance it will be turned off.

Sometimes, a womans Xinactivation pattern is not random

and the distribution of cells active vs
non-active is not evenly distributed
throughout their body

Barr Body

Barr Body

Barr Body

Normal 46XX female karyotype

Trisomy 21 (extra #21

chromosome) in a male (one X
and one Y chromosome)

Klinefelter syndrome (KS) is a disorder

that occurs in some men who have
more than one X chromosome (XXY).
Virtually every cell in the body
contains chromosomes, which carry
the genes that determine many of our
physical, intellectual, and emotional
characteristics.

Causes
Males usually inherit a single X chromosome from their
mother and a single Y chromosome from their father.
Males with KS get at least one extra X chromosome from
either their mother or their father.
In most cases there is only one extra chromosome.
The extra X chromosome is caused by a biological
accident.
Normally, an egg has one X chromosome and a sperm has
one X or one Y chromosome.
Occasionally, an egg may end up with two X chromosomes
or a sperm may have both an X and a Y chromosome.
When these abnormal eggs are fertilized by a normal
sperm, or the abnormal sperm fertilizes a normal egg, the
result is a male with two X chromosomes and one Y
chromosome (XXY).

Risk Factors for Klinefelter Syndrome

A risk factor is something that increases
your chances of getting a disease or
condition.
Women over age 35 have a slightly
increased chance of having a child with KS.
There are no other known risk factors for
this disorder.

Symptoms
Although the chromosome variation XXY occurs in approximately 1 out
of 1,000 live male births, many men with it do not develop KS.
When KS does develop, it usually goes undetected until puberty and
sometimes much later.
It may present in childhood as learning problems, adolescence as
excessive breast development, in adult life as infertility concerns and as
an unexpected finding on an amniocentesis.
Characteristics may include:
Tallness with extra long arms and legs
Abnormal body proportions (long legs, short trunk)
Enlarged breasts
Lack of facial and body hair
Small firm testes
Small penis
Lack of ability to produce sperm
Diminished sex drive
Sexual dysfunction
Learning disabilities

Treatment
Testosterone
When boys with KS are 10 to 12 years old, their hormone levels are
checked yearly.
If their testosterone levels are low, then treatment with testosterone
may be very helpful.
Men diagnosed in adulthood may also benefit from taking
testosterone.
However, testosterone cannot reverse infertility.
Testosterone is most often given through regular shots in the form of
depotestosterone.
The benefits of this treatment include:
Increased strength
More muscular, male appearance
Growth of facial and body hair
Better self-esteem
Modulation of mood
Increased energy
Increased ability to concentrate
Greater sex drive

A patient with Turner syndrome is shown. This posterior

view shows a low hairline and a shield-shaped chest.
Note the narrow hip development.