Name: Kaye A.

Bagasina
Grade/Section: 8- Euler
Topic: Turner Syndrome
Date: November 7,2019

Bio-Technology
I. INTRODUCTION
Turner syndrome (TS), also known 45,X, or 45,X0, is a genetic
condition in which a female is partly or completely missing an X
chromosome. Signs and symptoms vary among those affected. This disease occurs
in between one in 2,000 and one in 5,000 females at birth. It is rare genetic
disorder that’s found only in girls. Often, a short and webbed neck, low-set ears,
low hairline at the back of the neck, short stature, and swollen hands and feet are
seen at birth. Typically, they develop menstrual periods and breasts only
with hormone treatment, and are unable to have children without reproductive
technology. Heart defects, diabetes, and low thyroid hormone occur more
frequently.
Most people with Turner Syndrome (TS) have normal intelligence. Many
have troubles with spatial visualization that may be needed for mathematics. It
manifests itself differently in each female affected by the condition; therefore, no
two individuals share the same features.
Henry Turner first described the condition in 1938. In 1964, it was
determined to be due to a chromosomal abnormality.

II. MANNER OF INHERITANCE

In the majority of cases where monosomy occurs, the X chromosome comes
from the mother. This may be due to a nondisjunction in the father. Meiotic errors
that lead to the production of X with p arm deletions or abnormal Y chromosomes
are also mostly found in the father. Isochromosome X or ring chromosome X on
the other hand are formed equally often by both parents. Overall, the functional X
chromosome usually comes from the mother.

In most cases, Turner Syndrome (TS) is a sporadic event, and for the
parents of an individual with Turner syndrome the risk of recurrence is not
increased for subsequent pregnancies. Rare exceptions may include the presence
of a balanced translocation of the X chromosome in a parent, or where the mother
has 45,X mosaicism restricted to her germ cells. Rarely, Turner syndrome caused
by a partial deletion of the X chromosome can be passed from one generation to
the next

Most cases of Turner Syndrome (TS) are not inherited. Most commonly,

Turner Syndrome (TS) occurs due to a random event during the formation of an
egg or sperm cell in a parent (prior to conception). For example, if an egg or
sperm cell mistakenly loses a sex chromosome, and joins at conception with an
egg or sperm containing an X chromosome, the resulting child will have a single
X chromosome in each cell.

III. AFFLICTED CHROMOSOME NUMBER

Turner syndrome (TS) is due to a chromosomal abnormality in which all or
part of one of the X chromosomes is missing or altered. While most people have
46 chromosomes, people with (TS) usually have 45. The chromosomal abnormality
may be present in just some cells in which case it is known as Turner syndrome
(TS) with mosaicism. In these cases, the symptoms are usually fewer and
possibly none occur at all. Diagnosis is based on physical signs and genetic testing.
It is caused by the absence of one complete or partial copy of the X
chromosome in some or all the cells. The abnormal cells may have only one X
(monosomy) (45,X) or they may be affected by one of several types of partial
monosomy like a deletion of the short p arm of one X chromosome (46,X,del(Xp))
or the presence of an ischromosome with two q arms (46,X,i(Xq)) 
Turner syndrome (TS) has distinct features due to the lack of pseudo
autosomal regions, which are typically spared from X-inactivation. In mosaic
individuals, cells with X monosomy (45, X) may occur along with cells that are
normal (46, XX), cells that have partial monosomies, or cells that have a Y
chromosome (46, XY). The presence of mosaicism is estimated to be relatively
common in affected individuals (67–90%).
The rate of cardiovascular malformations among patients with Turner
syndrome ranges from 17% to 45%. The higher rate in the group of pure 45,X
monosomy is primarily due to a difference in the rate of aortic valve abnormalities
and coarctation of the aorta, the two most common cardiovascular malformations.
Vision and hearing problems occur more often.
About one-third of all women with Turner syndrome have one of three
kidney abnormalities; A single, horseshoe-shaped kidney on one side of the body;
An abnormal urine-collecting system; Poor blood flow to the kidneys.
Approximately one-third of all women with Turner syndrome (TS) have a
thyroid disorder. Usually it is hypothyroidism, specifically Hashimoto's thyroiditis.
 Women with Turner syndrome (TS) are at a moderately increased risk of
developing type 1 diabetes in childhood and a substantially increased risk of
developing type 2 diabetes by adult years. The risk of developing type 2 diabetes
can be substantially reduced by maintaining a healthy weight.
Women with Turner syndrome (TS) are almost universally infertile. While
some women with Turner syndrome (TS) have successfully become pregnant
and carried their pregnancies to term, this is very rare and is generally limited to
those women whose karyotypes are not 45, X. Even when such pregnancies do
occur, there is a higher than average risk of miscarriage or birth defects, including
Turner syndrome or Down syndrome. Some women with Turner syndrome (TS)
who are unable to conceive without medical intervention may be able to use IVF or
other fertility treatments.