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Chromosome Conditions Intro

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Chromosomal conditions are most often associated with errors during meiosis, leading to an alteration in the number of chromosomes or to alterations in chromosome structure affecting all cells in the body. A child or adult with a chromosome anomaly will typically have significant learning difficulty and may also have a congenital abnormality in one or more body organs.

This means that in many cases, chromosomal conditions will present in a family with no previous history of the condition and often be limited to a child presenting with the problem - as for example in 95% of cases of Down syndrome. In other cases, particularly if the anomaly could result from a mutual swap-over of a whole section of two different chromosomes (a balanced translocation), the alteration can be inherited. The inheritance pattern then seen in the family is with the condition occurring from birth in brothers and sisters in multiple generations, but with the affected people connected through a normal carrier parent.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 1 2 3 4 5 6 7 8 9



Balanced Translocation 4 & 13

Bushki Ollendorf syndrome


Cryptic interstitial duplication 15(q11-q13)


Duplication of 1q






Inversion(2) (p11.2q21)

Isodicentric (IDIC) 15





Monosomy 21p

Monosomy 6




Partial disomy of X chromosome

Partial duplication 12

Partial duplication 2 (ptrq22.q22-q13q21-qtr)15

Partial duplication of X chromosome

Partial duplication Xq

Partial trisomy 10q

Partial trisomy 11q

Partial trisomy 14q (q32.1)

Partial trisomy 1q (q42) and partial monosomy 12p

Partial trisomy 22q (q10qter)

Partial trisomy 2p

Partial trisomy 3p

Partial trisomy 4p

Partial trisomy 4q

Partial trisomy 5

Partial trisomy 8p

Partial trisomy19q

PAX3 and 2q36.1 deletion

Periodic Fever Syndrome



Ring 1

Ring 10

Ring 13

Ring 14

Ring 18

Ring 20

Ring 21

Ring 22

Ring 22 mosaic

Ring 6

Ring 8 mosaic

Ring 9 and 8 mosaic

Ring Chromosome 18



t(2,21,5)22, q21q13)

Tetrasomy 18p

Tetrasomy 48XXXX

Tetrasomy 9p

Tetrasomy 9p mosaic

Tetrasomy X

Translocation 1 & 5

Translocation 2 and 11

Translocation 2- 5-21

Translocation 46xx

Translocation 7 & 8

Translocation t(4q:13q)

Trisomy 10

Trisomy 12p

Trisomy 12p unbalanced translocation

Trisomy 13 (Patau Syndrome)

Trisomy 13 mosaic

Trisomy 14

Trisomy 14 mosaic

Trisomy 15 Inversion q13 de novo

Trisomy 15q (q23)

Trisomy 16 - Partial Monosomy 8

Trisomy 18 mosaic

Trisomy 19

Trisomy 2 (q32.1q34)

Trisomy 22

Trisomy 3p 22.2 Monosomy 9p24.2

Trisomy 4p

Trisomy 8 & 9 mosaic

Trisomy 8 and 9 mosaic

Trisomy 8 Mosaicism

Trisomy 9 duplication 9p and 13p

Trisomy 9p (p32)


Unbalance translocation 5q and 11q

Unbalanced translocation 10 and 21

Unbalanced translocation 11 del and add on 5

Unbalanced translocation 14 & 20

Unbalanced translocation 14 & 22

Unbalanced translocation 2 & 3

Unbalanced translocation 2p (23-2p25.3)

Unbalanced translocation 3 and 16

Unbalanced translocation 6 & 12

Unbalanced translocation 6 and 13

Unbalanced translocation 7q-34 and 9p+21

Unbalanced translocation 8 & 12

Unbalanced translocation 9 & 13

Unbalanced translocation 9 & 14

Unbalanced translocation 9p & 20p

Unbalanced translocation 9p and 20

Unbalanced translocation partial trisomy2 de novo

Unbalanced translocation X and 2

Unbalanced Translocation( 9:13) (q34;q12)




X chromosome gene duplication

X chromosome partial duplication

X duplication

X rare abnormality

Xp11.4 duplication

Xq duplication (q22.3)

Xq duplication (q25)

Xq duplication (q25)

Xq duplication (q27.3-q28)

Xq duplication (q27.3-q28)

Xq24 deletion

XXY mosaic




10p and 10q partial deletion

10p deletion

10p deletion (p12-p14)

10p deletion (p13-pter)

10p deletion (p15-pter)

10p deletion p13

10q 36 deletion

10q deletion

10q deletion (q23.2-q24.1)

10q deletion q26.3 and 10p duplication (p15.1-p15.5)

10q duplication (q24.1-q26.3)

11p additional material on p15.5

11q deletion

11q deletion (q13.4)

11q deletion and translocation 5q

11q deletion and Trisomy 9p

11q dup attached to Chr 3,partial trisomy 11q

12p deletion

12q deletion (q13-q15)

12q deletion (q21.2-q21.33)

13 additional material

13 deletion

13 deletion (band 22-23) & marker

13q deletion

13q deletion (q13.1-q14.11)

13q deletion (q13.3-q14.11)

13q deletion (q14-q22)

13q deletion (q22-q32)

13q34 duplication (0.3MB)

14 additional material

14 deletion

14 Maternal uniparental disomy (MUPD)

14q additional material

14q deletion

14q deletion (q12)

14q deletion (q22-q23)

14q deletion (q24-q31)

14q deletion (q31-q32)

14q deletion (q32.1-q32.33

14q duplication

14q duplication (q32.12-q32.2)

15 additional material

15 deletion

15 Inverted duplication (q13-qter)

15 isodicentric duplication

15p duplication

15q additional material (q11.2)

15q deletion

15q deletion (q24)

15q duplication

15q duplication (q26.3)

15q microduplication (q26.3)

16q deletion (q11.2-q13)

16q duplication (q11.2-q13)

17 duplication

17p additional material

17p deletion

17p duplication (p11.2-p13.1)

17p microdeletion (p13.3)

17q additional material

17q deletion (q11.2)

17q deletion (q21.31)

17q microdeletion (q12)

17q microdeletion (q21-q22)

18p deletion

18p deletion (p11.23-p11.29)

18p deletion and translocation 15p

18q additional material

18q deletion

18q deletion (q21.3)

18q deletion (q23)

18q duplication (q21.33-q23)

19p deletion (p13.3) & Chiari

19q addition

19q deletion and tetralogy of fallot

1p deletion (p13-p21.1)

1p deletion (p36)

1p deletion (p36.3)

1p duplication (p36.21)

1q deletion (q38)

1q deletion (q43-qter)

1q duplication (q29)

1q microdeletion (q2-q1.2)

1q21.1 microdeletion


20 additional material

20q deletion (q11.22)

21 additional material

21 deletion

22q deletion (q1.3)

22q deletion (q13.2-qter)

22q deletion (q13.3)

22q duplication (q11.21)

22q11 Microduplication syndrome

2p deletion (p22.3)

2p deletion 16.3

2p duplication (p11.2)

2p Inversion of (p11.2q21)

2q deletion

2q deletion (q14.3-q23)

2q deletion (q24.2q32.2)

2q deletion (q31)

2q deletion (q37.1)

2q deletion (q37.1-qter)

2q deletion (q3q2.1)

2q deletion 22.3

2q deletion 32

2q microdeletion 32.1

2q partial duplication (2q21.3-24.2)


3 deletion

3 duplication

3q duplication

3q duplication (q25)

3q duplication (q25.1-q29)

3q duplication (q28-q29)


4p deletion mosaic

4q additional material

4q deletion

4q deletion (34 & beyond)

4q deletion (4q25-q31.1)

4q deletion (q21.1-qter)


5 partial deletion and balanced translocation of 1

5p duplication (p13.1-p14.1)

5q deletion (q15-q21)

5q deletion (q33.3-q35.1) and VCFS

5q partial duplication and inversion of 9


6p deletion

6q additional material

6q deletion (q12-q13)

6q deletion (q15-q16.3)

6q deletion (q15-q21)

6q deletion (q27)

6q duplication (q13-q14.1)


7p deletion (p22.3)

7p deletion (p3-p7)

7q deletion (q21)

7q deletion (q21-q22)

7q deletion (q22.3)(q31.3)

7q deletion (q34-q36.1)

7q deletion (q35)


8p additional material

8p deletion

8p deletion p12,p21.3 interstitial de novo

8p duplication (p23.1-pter)

8p duplication and congenital adrenal hyperplasia

8q duplication


9p 22 translocation

9p additional material

9p deletion (9p12p13)

9p deletion translocation from 20

9p duplication

9p duplication (p24.3-p13.3)

9p partial triplication

9q deletion (q33.3-q34.11)

9q deletion (q34)

9q deletion (q34.3-qter)

What can Genetic Alliance Australia do for me?

<p>GA will endeavour to facilitate contact with another family/individual affected by the same, or similar conditions, and/or provide information about an overseas support group.GA also provides a Peer Support and Information Officer who deals with enquiries and facilitates ongoing support for individuals, families, health professionals and other interested groups.</p> <ul> <li>GA Aus has a database of over 1400 predominantly rare genetic conditions/ rare diseases and has a Rare Treasures support group which has over 250 very rare chromosomal abnormalities</li> <li>Resources relating to education, respite care, medical services, allowances, and other helpful organisations</li> <li>Information seminars</li> <li>Local and regional contacts</li> <li>Regular newsletters</li> </ul>

What is a genetic condition?

A gene or chromosome fault can result in a genetic condition. Genes are the instructions that determine physical characteristics such as height, hair and eye colour, strength of our bones and the correct functioning of our bodies. Genes are located on chromosomes inside the cells of our bodies. A genetic condition can run in families, but may occur without a previous family history.

Is there a support group for my genetic condition?

Take a look at our list of support groups in our list of genetic conditions, or contact Genetic Alliance on +61 2 9295 8359.

List of genetic conditions

What funding is available?

Centrelink provides funding for carers and people living with genetic conditions.

Click here to visit the Centrelink website

How many families in Australasia are affected by a genetic condition?

■ Currently it is estimated one person in ten will be adversely affected, directly or indirectly, by a genetic problem during their lifetime

■ About half of all miscarriages are caused by chromosomal abnormalities

The completion of the full human genome sequence, in February 2001, refined the estimated number of genes in the human genome to around 30,000. Interestingly, the number of genes needed to make a human being is only double the number needed for apparently much simpler animals, such as fruit fly or a worm!

Around 22,000 genes have been identified to date. Almost 14,014 of these have been mapped to their chromosomal location and of these around 1,639 genes have been associated with human genetic disorders.

The list is increasing every year and includes such disabilities as blindness, cystic fibrosis, muscular dystrophy, haemophilia, breast cancer and problems with intellectual and physical development.

At present genetic testing is available in Australasia for approximately 300 disorders. Some tests are for genes involved in rare congenital disease of childhood. Some are for single gene disorders that manifest in the adult years.

Genetic Counselling FAQs

<p><span style="font-size: medium;"><strong>The following has been republished from the Human Genetics Society of Australasia -</strong></span>

In various regions of Australia and New Zealand, clinical genetics units and/or services are administered by public and private health facilities and may function quite differently. Most clinical genetics services require a letter or phone call from a referring health professional. Written referrals are usually preferred, because this facilitates continuity of care following the genetic consultation. However, self-referral may be acceptable to some units. All units welcome phone contact from individuals who have concerns about their genetic history or who have a genetic concern about their current pregnancy. A brief discussion with the duty genetic counsellor will clarify the appropriate approach.

As members of a relatively new, developing profession, it is very important that we understand the way in which our services are received and / or experienced by members of the public. Please provide this feedback via our email contact link:

Before attending a genetic counselling session, it may be helpful to find out as much information as you can about the medical history of both sides of your family as this is the type of information discussed at your appointment. This might include:</p> <ul> <li>How you are related to each family member, including whether family members are adopted or half relatives </li> <li>any major health conditions that affect family members</li> <li>the age of onset of each condition</li> <li>information on miscarriages</li> <li>the cause and age of death of family members (if relevant)</li> </ul> <p>We appreciate this is sometimes not always possible as some people do not have contact with some branches of their family or may be adopted and know very little family history information. If you were concerned about the level of information you will be able to gather, it would be helpful to discuss this with the genetics service before the appointment. You may also sometimes be asked to bring photographs of family members to an appointment.
It’s a good idea to write down any questions you think of before going to a session to make sure they are answered.

A list of the genetic counselling services within Australia and New Zealand can be found by following our link to find a genetic counsellor.

Most genetic counselling services will provide you and your referring doctor with a summary letter of your appointment. The genetic counselling service will also have access to fact sheets, brochures, booklists and recommended internet resources about the genetic condition and support services. If you would like a recording of your consultation, you may like to check whether you can bring a blank audio tape with you to your appointment for this purpose.
You can always call or ask to be seen again if you have further questions or concerns

Genetic counsellors do not make decisions for you – their role is helping you reach decisions which are appropriate for you and your family. After genetic counselling, you may have to make decisions about:</p> <ul> <li>whether or not to have genetic testing done</li> <li>who to tell about the results of the test</li> <li>whether you want medical treatment, if it is available</li> <li>how you are going to live your life in response to the results of the testing</li> <li>how much support you are going to need</li> </ul> <p>Genetic counsellors are skilled with helping people reach a decision which feels right for that person. For some people, all they need is a lot of information. Once they have this information, they feel that they have everything they need to make their own decision. For others, it is easier to go through a series of scenarios (“Imagine if”) where they try to think about how it would feel if they opted for testing, how they might cope if the result was good news or bad news, who they would talk to about it, how it might affect their financial and personal lives and how it might affect the people around them.

This appointment will usually take between 1-2 hours. It may involve a number of different members of the genetic counselling service depending on the types of genetic condition to be discussed. Your genetic counsellor will</p> <ul> <li>ask you what specific questions or concerns you have and he/she will aim to answer these during the session. You may also like to bring a family member or friend for additional support.</li> <li>take a record of your family and personal medical history. They will ask questions about your relatives such as names, dates of birth and death, causes of death and general health. If English is not your first language an interpreter can be arranged. Once they have all the needed information they will be in a better position to explain</li> <li>Provide information on what they know about the condition, how it may affect family members and how/if it is inherited in your family, how to manage the condition and any relevant support resources and research.</li> <li>may ask you to have a blood test, usually within the same building. You can find out what is involved and how long results take before taking any tests. Although genetic diagnosis is available for an increasing number of conditions, technology is not at a point yet where every condition can be identified, so it is important to be aware that you - may not get a diagnosis or there may not be a genetic test available at that point in time. If a diagnosis is not made or a genetic test is not available, it may be appropriate to be reviewed in the clinic at a later point in time.</li> <li>Provide support and counselling to promote informed choices and the best possible adjustment in view of risk assessment, family goals, ethical and religious values</li> </ul> <p>A medical specialist may sometimes need to do a physical examination. Draw their attention to any feature of concern to you. They may also wish to examine family members who are present. You can request a doctor of the same sex if preferred. In some cases, photos can assist with diagnosis. Written permission is required and you can refuse the request for photos.</p> <p>After the initial consultation an opportunity may be provided to go over the information and offer on-going support as families and individuals learn about the condition. It is very common for people to think of many questions after the genetic counselling session, and new questions also arise as a condition develops. Follow-up is provided in further consultations, if geographically possible, or by telephone. A letter summarising the consultation(s) is also provided.</p> <p>The Human Genetics Society of Australasia has documented guidelines for the Process of Genetic Counselling.

Genetic counselling is a communication process, which aims to help individuals, couples and families understand and adapt to the medical, psychological, familial and reproductive implications of the genetic contribution to specific health conditions.

Some genetic information may have implications for your options for insurance cover such as life, income protection, disability, trauma, business and insurance relating to bank loans.

The HGSA position statement provides information for individuals and professionals about the implications personal genetic information may have on Australian insurance products.:

<strong>What is the difference between a genetic counsellor and other health professionals who provide genetic counselling?</strong>
In Australasia, genetic counsellors, must have completed an approved postgraduate program in genetic counselling which involves specialist training in genetics and counselling.</p>

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