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Picture 1.
Chromosomes as they appear
under a microscope
2
Usually, each of us has 46 chromosomes in every cell. We inherit our chromosomes from
our parents, one set of 23 chromosomes from our mother and one set of 23 chromosomes
from our father. So we have two sets of 23 chromosomes, or 23 pairs. The pairs of
chromosomes are numbered according to size, starting with the largest chromosome,
chromosome 1, through to chromosome 22. The remaining pair are called the sex
chromosomes.
There are two kinds of sex chromosome, one called the X chromosome and one called the
Y chromosome, and they control whether a person is male or female. Females normally
have two X chromosomes (XX), as shown in picture 2. A female inherits one X
chromosome from her mother and one X chromosome from her father. Males normally
have an X chromosome and a Y chromosome (XY). A male inherits an X chromosome
from his mother and a Y chromosome from his father.
Turner syndrome
Turner syndrome affects only girls and is caused by complete or partial loss of one X
chromosome. A girl or woman with Turner Syndrome has only one X chromosome (45,X,),
rather than two, as normal (46,XX).
3
Occasionally, an affected person has only a part of one X chromosome missing, rather
than the whole X chromosome; she may be less affected by the disorder than a person
who has lost an entire X chromosome. Another possibility is that a person with Turner
syndrome is a mosaic: she has the normal number of X chromosomes (XX) in some cells,
and only one X chromosome (X) in other cells. The effects of Turner Syndrome in a
mosaic depend on the proportion of XX cells to X cells throughout her body.
A very few girls with Turner Syndrome have a fragment of Y chromosome material as well
as a single X chromosome. It is important to identify these girls, as the presence of Y
chromosome material puts them at risk of developing a tumour (cancer) of their ovaries
(the part of the body that makes eggs). For these very few girls, surgery is generally
recommended, to remove the ovaries.
4
short fingers and toes
short stature (height)
moles
Turner syndrome is also associated with some medical problems, the most common
problems are:
heart murmur
narrowing (coarctation, of the aorta, the major blood vessel which takes blood from
the heart to the rest of the body
under-active thyroid gland
tendency to get ear infections
short sightedness
high blood pressure
kidney problems
osteoporosis (weakened bones)
specific learning difficulties
infertility
Web: www.tss.org.uk
Web: www.gig.org.uk
Contact a Family
209-211 City Rd.,
London EC1V 1JN
Telephone: 020 7608 8700 FAX: 020 7608 8701
Helpline 0808 808 3555 or Textphone 0808 808 3556
(Freephone for parents and families, 10am-4pm, Mon-Fri)
Email: info@cafamily.org.uk
Web: www.cafamily.org.uk
This edition prepared July 2005
Ref: 22
(45,X). Scientific abbreviation for the chromosomes usually found in someone with
Turner syndrome. There are 45 chromosomes, instead of the usual 46, and there is one
X chromosome, instead of the usual two in a female.
22
(46,XX). Scientific abbreviation for the chromosomes usually found in women and
girls. There are 46 chromosomes, including two X chromosomes.
aorta. A very large blood vessel that carries blood from the heart to the rest of the body.
cancer. Abnormal growth of cells.
cardiologist . A doctor who specialises in conditions which affect the heart.
cell . The human body is made up of millions of cells, which are like building blocks. There
are many specialised types of cells. These include skin cells, brain cells, and blood cells.
Cells in different parts of the body look different and do different things. Every cell (except
for eggs in women and sperm in men) contains all the bodys genes.
chromosomes. Thread-like structures which can be seen under the microscope and
contain the genes. Usually people have 46 chromosomes in every cell. There are two sex
chromosomes and 22 other pairs of chromosomes. Twenty-three chromosomes come
from the mother, and twenty-three come from the father. One chromosome of each pair
comes from each parent. (As an analogy: a chromosome is like a book; a gene is like a
story in the book).
coarctation of the aorta. Narrowing of the aorta. This may cause problems with the
circulation of the blood.
conception. When an egg and a sperm join together to make the first cell of a new
baby.
donor eggs. Eggs donated by another woman, to allow in vitro fertilisation (IVF) and
the hope of pregnancy, in a woman whose own eggs are unsuitable or missing.
egg. The mothers contribution to the cell which will grow to make a new baby. The egg
contains 23 chromosomes; one from each pair in the mother. A sperm also contains 23
chromosomes one from each of the fathers pairs. The egg joins with a sperm to make a
complete cell. A baby develops from this first cell.
gene. Information needed for the body to work, stored in a chemical form on
chromosomes. Changes in genes alter the information and this can change how the body
works. Most genes are in pairs, one from the mother and one from the father. The two
genes of a pair are at matching places on a pair of chromosomes. Genes on the X
chromosome and the Y chromosome of males are not paired with each other; they do
not match. (As an analogy: a gene is like a story in a book, changes in genes are like
changes in a story).
heart murmur. A sound heard by a doctor who listens to a patients heart. It may
indicate a problem with the movement of blood through the heart.
hormones. Chemicals made by the body to control particular tasks such as growth, the
start and progress of puberty or making eggs. Hormones may also be given as
medicines.
infertile. Unable to have children. Most girls and women with Turner syndrome are
infertile. Some girls and women with mosaic Turner syndrome are fertile.
in vitro fertilisation, IVF. Joining of the egg and sperm outside the body, in a tube in
a laboratory. After transfer into the mothers womb, the hope is that the resulting
pregnancy will be healthy.
oestrogen. A female hormone which is normally made by the ovaries and is important
in puberty. Can also be given as a medicine.
osteoporosis. Weakening of the bones, which makes them more likely to break.
ovaries. Parts of a womans body that produce eggs.
period. Monthly bleeding (menstruation) in a woman.
progesterone. A female hormone which is normally made by the ovaries and is
important in puberty. Can also be given as a medicine.
puberty. Start of changes in the body, including increase in height, breast development
and the start of menstruation (periods).
sperm. The fathers contribution to the cell which will grow to form a new baby. Each
sperm contains 23 chromosomes; one from each pair in the father. An egg contains one
chromosome from each of the mothers 23 pairs. The sperm joins with an egg to make a
complete cell. A baby develops from this first cell.
syndrome. A group of features which occur together in affected people. Affected people
share some or all of the features of the syndrome.
thyroid gland. Part of the body at the front of the neck. It makes a hormone which helps
to control energy levels, and affects growth, the heart and the gut.
XX. This represents the usual sex chromosomes of a female. Females usually have two
X chromosomes. One X chromosome is inherited from each parent. Females with
Turner syndrome have only one X chromosome.
XY. This represents the usual sex chromosomes of a male. Males have one X
chromosome and a Y chromosome. A male inherits his X chromosome from his
mother and his Y chromosome from his father.
Y chromosome. One of the sex chromosomes. Males have one Y chromosome and
one X chromosome. Females usually have two X chromosomes.
This glossary is intended only for use by patients and families, with the genetic
information to which it refers.
This edition prepared in July 2005
Ref Glossary 22