Robertsonian Chromosome Translocations

What is a chromosome translocation?

To understand what a chromosome translocation
is, it is helpful to know something about genes and chromosomes.

What are genes and chromosomes?

Our bodies are made up of millions of cells. These cells are grouped together to make up
parts of the body such as our muscles, our heart and our brain. Cells carry all the
information needed for our bodies to work. The information is contained in our genes. We
each inherit two copies of most genes, one copy from our mother and one copy from our
father. Genes act like a set of instructions, controlling our growth and how our bodies
work. Genes are responsible for many of our characteristics, such as our eye colour, blood
type or height.

Genes are carried on thread-like structures called chromosomes. It is possible to see

chromosomes under a microscope. Picture 1 shows what they look like.

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). A female inherits one X chromosome from her mother
and one X chromosome from her father. Males have an X and a Y chromosome, (XY). A
male inherits an X chromosome from his mother and a Y chromosome from his father.

Picture 2. The chromosomes arranged according to size; chromosome

1 is the largest. The last two chromosomes are the sex chromosomes.
 3

What is a Robertsonian chromosome translocation?

Robertsonian translocations occur when one chromosome becomes attached to another.
Only five of the 23 pairs of chromosomes take part in Robertsonian translocations (these
are chromosomes 13, 14, 15, 21 and 22). Robertsonian translocations happen during the
making of eggs and sperm, or shortly after an egg and sperm come together to make a
baby (at conception).

Picture 3.
Error!

Two pairs of Robertsonian translocation:

normal a chromosome from one pair has become
chromosomes attached to a chromosome from another pair

A Robertsonian translocation like the one shown in picture 3 is called a balanced

translocation. This is because the chromosome material has been rearranged in such a
way that no important bits of chromosome material have been lost from the cell and no
extra material has been acquired. There is still the same number of genes, but they have
been moved to different places.

A person who carries a balanced Robertsonian translocation is not usually affected by it,
and is often unaware of having it. The only time it may cause the person problems, is
when he or she comes to have children. This is because the child may inherit an
unbalanced form of the translocation.

Unbalanced Robertsonian translocations

If either parent carries a balanced translocation, it is possible for their child to inherit an
unbalanced chromosome rearrangement. If this happens, the chromosome rearrangement
in the child either has some extra chromosome material or has some chromosome
material missing. This type of rearrangement is called an unbalanced Robertsonian
translocation.

It is important that we have the correct amount of chromosome material and therefore the
correct number of genes. If there is missing or extra chromosome material, the body has
either too little or too much genetic information. This can lead to a chromosome disorder.
The seriousness of the disorder depends on exactly which chromosomes are involved. If a
baby does have an unbalanced Robertsonian translocation, there is very often some
degree of learning disability and physical disability and this is often severe. When one
parent carries a balanced translocation and the other has normal chromosomes, there are
four possible combinations of chromosomes that a child of theirs could inherit. These are
shown in Picture 4.
 4

Picture 4. Chromosome arrangements in children of a parent who

carries a balanced Robertsonian translocation.

Parents chromosomes Parents chromosomes

Chromosomes in parent carrying a Chromosomes in other parent

balanced Robertsonian translocation (normal arrangement)

Possible chromosome arrangements in their children

1. Normal 2. Balanced 3. Unbalanced 4. Unbalanced

chromosome
arrangement
in a child
Robertsonian translocation in a child

A child who inherits either of the first two chromosome arrangements (1 and 2 in picture 4)
is not likely to have problems related to its chromosomes. A child who inherits an
unbalanced Robertsonian translocation may have significant learning disability and
physical disability.

If a parent has a balanced Robertsonian translocation will he or she

always pass it on?
Not necessarily, there are several possibilities for each child:

The child may inherit entirely normal chromosomes.

The child may inherit the same balanced rearrangement as the parent. In most
cases the child will not have any problems as a result of the translocation.

The child may inherit an unbalanced rearrangement of the chromosomes. This may
have one of two outcomes. Either the pregnancy may end in miscarriage or the
child may be born with some degree of physical disability and learning disability.
 5

Sometimes a child can be born with a Robertsonian translocation although both parents
chromosomes are normal. This is called a de novo (from Latin) or new rearrangement. In
this case the parents are unlikely to have another child with a translocation.

Tests for Robertsonian chromosome translocations

Genetic testing is available to find out whether a person carries a Robertsonian
translocation. This is done on a small blood sample. It is also possible to do a test during
pregnancy to find out whether a baby has a Robertsonian translocation. This is called
prenatal diagnosis.

What about other family members?

Once a carrier of a balanced Robertsonian translocation has been discovered in a family, it
is usual for specialist staff at a genetics clinic to offer to see other family members. If these
relatives wish it, they can be tested to check whether they carry the translocation.
Sometimes people find it difficult to tell other members of the family about the
translocation. They may be worried about causing anxiety in the family. In some families,
people have lost touch and it may feel difficult to contact them. Genetic counsellors
working in regional genetics centres have a lot of experience with families in these
situations and may be able to offer help in approaching other family members.

Points to remember
Balanced Robertsonian translocation carriers are usually healthy. Problems may
arise in the children of a balanced Robertsonian translocation carrier.

A translocation either is inherited from a parent or arises at the time of conception.

A translocation cannot be corrected it is present for life.

A translocation is not something that can be caught from other people. Therefore
a translocation carrier can still be a blood donor, for example.

People often feel guilty about problems like this, which run in the family. It is
important to remember that a Robertsonian translocation is not caused by anything
that the person who has it did or did not do. It is not caused by anything that the
persons parents did or did not do.

A carrier of a balanced Robertsonian translocation can have healthy children

 6

Where can I get more information about chromosome translocations?

This is only a brief guide to Robertsonian chromosome translocations. More information
can be obtained from your local regional genetics centre or from these addresses:-

Unique - The Rare Chromosome Disorder Support Group

PO Box 2189,
Caterham,
Surrey,
CR3 5GN
Telephone: 01883 330766
Email: info@rarechromo.org Web:www.rarechromo.org

The Genetic Interest Group

Unit 4D,
Leroy House,
436 Essex Rd.,
London
N1 3QP
Telephone: 020 7704 3141
Email: mail@gig.org.uk Web: www.gig.org.uk

Contact a Family
209-211 City Rd.,
London
EC1V 1JN
Tel: 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)
e-mail: info@cafamily.org.uk Web: www.cafamily.org.uk

This edition prepared in July 2005 Ref 21

`
 7

Glossary (difficult words and their meanings): Robertsonian

Chromosome Translocations
This glossary is intended only to explain terms used in the information: Robertsonian
Chromosome Translocations. Words shown in bold are defined elsewhere in the
glossary.

balanced Robertsonian translocation. A Robertsonian translocation in which

the small amount of chromosome material lost does not affect any important genes. A
person with a balanced translocation is not affected by it.

carrier. A person who has a balanced Robertsonian translocation; all the genes
needed for the body to work are there, but the chromosome material is rearranged in a
translocation.

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).

conception. When an egg and a sperm join together to make the first cell of a new
baby.

de novo. Phrase from the Latin language, meaning from new. Used to describe a
translocation which is new in a child, when both the childs parents have normal
chromosomes.

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, one from the father. The two
genes of a pair are at matching places on a pair of chromosomes. Genes on the sex
chromosomes of males are not paired; they do not match. (As an analogy: a
chromosome is like a book, a gene is like a story in the book, changes in genes are like
changes in the story).

genetic. Caused by genes, concerning genes.

 8

genetic counsellor. A specialist who gives information and support to people who
have a history of a genetic condition in their family, or who are concerned about their risk
for inheriting or passing on a genetic condition.

miscarriage. Early end to a pregnancy, before the baby can survive outside the womb.

prenatal diagnosis. Test during a pregnancy for the presence or absence of a genetic
disorder in the baby.

Robertsonian translocation. Chromosome translocation involving chromosomes

13,14,15, 21 or 22.

sex chromosomes. The X chromosome and the Y chromosome. The sex

chromosomes control whether a person is male or female. Females have two X
chromosomes. Males have one X and one Y chromosome.

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.

translocation. Rearrangement of chromosome material. Arises when a piece of a

chromosome is broken off and then reattached in the wrong place.

unbalanced Robertsonian translocation . A translocation in which the

chromosome rearrangement either has some extra chromosome material or has some
missing chromosome material. May arise in the child of a parent with a balanced
Robertsonian translocation.

This glossary is intended only for use by patients and families with the genetic information
to which it refers.

This edition prepared July 2005 Ref Glossary 21