Understanding Rare Chromosome and Gene Disorders

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Glossary

Unique GLOSSARY of genetic / genomic terms General Acrocentric a chromosome whose centromere is close to the end of the p-arm (chromosomes 13, 14, 15, 21 and 22). Allele...

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Professionals

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Families

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Data Protection & Privacy Policy

This policy document sets out how Unique collects, stores and uses the personal data you share with us, for example when you join us as members, fundraise for us, make...

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Support Us

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COVID-19 General Advice

#StayHomeStaySafe Check out Unique’s guide for families, containing lots of Covid-19 related information, guidance, ideas, resources and sources of help. Includes education, health, therapies, activities and much more. Click...

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Donate

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Mental health & wellbeing

Living with, or caring for a loved one with a rare chromosome or gene disorder can sometimes affect our emotional health. It is important to look after your mental...

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Unique's Funday Friday | 19th June 2020

We would love you to join us for a Funday Friday on the 19th June to celebrate our Unique shining stars and the resilience we’ve shown as a community...

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Gift ideas and useful websites

By Unique’s Family Support Officer, Marion Mitchell. For those of you (like me) who find it hard to buy gifts for your chromosome/gene cutie, I have created this to help...

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Annual Reports

You can download copies of Unique annual reports and accounts by clicking on one of the links below: Annual Report and Accounts 2019 (Registered Charity 1110661, Company Number 5460413) Please...

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Terms & Conditions

These Terms and Conditions apply to everyone using the Unique Members Area including social networks such as Facebook and Twitter. Unique believes that online social networks, chat rooms, message boards,...

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Awareness Week

This year is the 6th Global Rare Chromosome Disorder Awareness Week which will run from Sunday 16th – Friday 21st June. #shinebrighttogether We want to celebrate and educate……shine bright together...

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Information

Keeping you informed Rare chromosome disorders include extra, missing or re-arranged chromosome material but do not include the more common chromosome conditions such as Down’s Syndrome. Unique also deals with...

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Awareness Day 2021

Save the date! Thursday June 24th is Rare Chromosome Disorder Awareness Day. It’s a day for us all to celebrate and educate, shine bright together and reach out to...

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Equal Opportunities Policy

Introduction Unique – Rare Chromosome Disorder Support Group is fully committed to equality of opportunity and service provision and is opposed to all forms of unfair or unlawful discrimination. We...

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Disorder Guides

Rare Chromosome & Gene Disorder Guides Below you will find our free Information Guides to specific chromosome and gene disorders, as well as guides translated into various languages. Do scroll...

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Where can I get help and support when the Unique team is not available?

At Unique, we strive do as much as we can to help, as quickly as we can. However, Unique is not a crisis service and we might not be...

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Members

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Registered Chromosome Disorders & Gene Variants

Registered Chromosome Disorders & Gene Variants Unique has the following rare chromosome disorders and autosomal dominant (but not autosomal recessive) single gene variants in its membership. When searching for a...

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Forgot password

If you have forgotten your Unique member password, please enter your membership details, old username and new password in the boxes below and press the button labelled Set Password. This...

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Practical Guides for Families

Keeping you informed To read and download any of our practical guides for families, including our brand new Self-Isolation Resources Guide, click View below. If you would like to see...

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Unique Family Members' Area Registration

If you have already joined Unique’s family membership, then you can access this family members-only area by completing all the details below. When entering your membership number, make sure to...

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News

A Unique Experience

At the end of June, a trainee genetic counsellor, Nezzy Evans, joined Unique for 2 weeks to learn more about what our charity does and how we fit in the...

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New general advice regarding Coronavirus (COVID-19) for patients with rare genetic disorders

14th April 2020 Below you will find some new information sheets regarding COVID19 for people with rare genetic/genomic disorders, including rare chromosome and gene disorders. These information sheets were...

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Discussion groups to understand community attitudes to research on rare genetic disorders in British Pakistanis

The British Pakistani community has a high incidence of rare genetic disorders. Families affected by these disorders can spend years in search of a precise genetic diagnosis.  Research into...

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BSL Translations of Covid-19 Information Sheets for People with Rare Genetic Disorders

The information sheets regarding COVID-19 for people with rare genetic/genomic disorders, including rare chromosome and gene disorders are now available in BSL (British Sign Language). With thanks to the British Society...

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The Be-Well Checklist: Helping parents, carers and professionals to change the behaviour and improve the wellbeing of people with severe learning disability and complex needs.

When someone has a severe learning disability and complex needs, it can be difficult to know how they are feeling or why they are showing a particular behaviour. Research...

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Video versions of Covid-19 Information for People with Rare Genetic Disorders

Information regarding COVID-19 for people with rare genetic/genomic disorders, including rare chromosome and gene disorders are now available in video versions for people with visual impairment and people who...

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UK Rare Diseases Framework

Unique is happy to share the new UK Rare Diseases Framework that was published on Saturday (9th January 2021). Many Unique members, alongside other members of the rare disease...

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Unique's Christmas Colouring Competition!

⭐ Our popular Christmas Colouring Competition is here! ⭐ πŸŽ„ Print off the photo and get colouring! 🌈 Open to everyone of all ages & abilities, wherever you are...

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Covid-19 Vaccinations (UK Only)

24th February 2021 Unpaid carers are now being invited for their Covid vaccinations as part of priority group 6. It is advised that parents request their GP to mark...

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Improving mental health info & services for children with rare genetic conditions – Can you help?

Cerebra and Cardiff University are working on a project aimed at improving mental health information and services for children with rare genetic conditions. Cerebra are a national charity who work...

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9p minus syndrome research project (USA only)

Dr. Cole and his team are embarking on an expansive research project involving as many members of the Chromosome 9p Minus Network as possible. This groundbreaking study takes advantage...

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Shielding Poster

Shielding poster to print off & display on your front door to warn others that you and your family are shielding during the Covid-19 pandemic. Unique Shielding Poster –...

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National Conversation on Rare Disease: Make Sure Your Voice is Heard

The existing UK rare disease strategy finishes at the end of 2020. The government intends to produce a “rare disease framework” to follow on from this strategy to improve the...

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Guidance on shielding and protecting people who are clinically extremely vulnerable from COVID-19

New guidance is available for people living in England who were previously advised to shield. Children who are clinically extremely vulnerable are advised not to attend school. Appropriate arrangements...

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Unique over Christmas and the New Year

Our staff are working from home in line with government guidance but after a challenging year, we will be taking a break over Christmas from the 24th December 2020...

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This week is Chromosome & Gene Disorder Awareness Week....

It’s a week to shine a spotlight on all those special people affected by rare chromosome and gene disorders and their families. Running from June 17th-23rd, each day has a...

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2p16.3 Deletion Research Invitation

We have been asked by researchers at Perelman School of Medicine in the USA to let families affected by a 2p16.3 deletion or a NXRN1 gene disorder know about their...

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Join our Team: Unique are Recruiting!

Vacancy – Part-Time Information Officer (Family Support) Unique provides a specialist information and support service to families affected by rare chromosome disorders, copy number variants and autosomal dominant single...

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The CoIN Study

Covid-19 impact on wellbeing of families of children with rare neurogenetic disorder The CoIN Study will track changes in wellbeing during and after the pandemic in order to understand...

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The Unique Team Spreading the Word

Unique provides various services such as our helpline, numerous information guides and a magazine and we hold regular regional family social events. We also maintain various social media resources like...

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Sensory Profiles in Rare Genetic Syndromes

Take part in research from home! If you are a parent or caregiver of a child aged 3-14 years old with: Sotos syndrome Tatton-Brown Rahman syndrome 16p11.2 duplication syndrome...

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Translating Unique's Chromosome Disorder Guides

PHOTO CREDIT: HANS ODEBERG We’re pleased to have our first chromosome disorder information guide available in Swedish. Thanks to Kristina Runyeon-Odeberg for help with the translation. Read her story...

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People

Claire Andersen BSc (Hons) PhD

I first discovered Unique four years ago when my sister’s gorgeous youngest daughter Tilly was diagnosed with Tetrasomy 9p. While very little information was made available to her upon diagnosis,...

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Sophie Sainty

I have a teenage son Max with a duplication 9p23.1p13 and deletion 9p23.1p23.3) and a younger daughter. Unique changed our lives when we were told shortly after his birth of...

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Disorder Guides

Delezione Prossimale Del Braccio Lungo Del Cromosoma 18 Dalla Posizione Q11.2 Alla Posizione Q21.2

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PACS1 related syndrome (Schuurs-Hoeijmakers syndrome) Russian

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16p Duplications Of 16p Russian

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22q11.2 Deletion Syndrome (Velo-Cardio-Facial Syndrome) Russian

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22q11.2 deletion syndrome (Velo-Cardio-Facial Syndrome) Portuguese

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16p11.2 Mikroduplikacje 16p11.2 Polish

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22q11.2 Deletion Syndrome (Velo-Cardio-Facial Syndrome)

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11q Terminale Deletie 11q Jacobsen Syndroom

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18p La Delezione Del Cromosoma 18p Italian

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13q Deletions Including The End Of 13q

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7q11.23 Syndrome Duplicationnel 7q11.23 French

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WAC Syndrome (DeSanto-Shinawi Syndrome)

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13q Deletions De La Region 13q Terminale French

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3p25 Deleciones 3p25 Tambien Llamadas 3p- (Menos) Spanish

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2p16 3 Delecion 2p16 3 (NRXN1) Spanish

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2q33.1 Deletions And Other Deletions Between 2q31 And 2q33

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18q deletions 18q de 18q11.2 a 18q21.2 French

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SLC12A2 syndrome and SLC12A2-related deafness

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XYY Living With XYY

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SOX5 syndrome Lamb Shaffer Syndrome 12p12 deletions

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SOX5 syndrome Lamb Shaffer syndrome 12p12 deletions French

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SOX5 Syndrome Lamb Shaffer Syndrome 12p12 Deletions

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XYY Living with XYY Georgian

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5q22 Deletions Incluant La Region 5q22 French

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PUF60-related syndrome (Verheij syndrome)

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SOX11 Syndrome And 2p25 Deletion Syndrome

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Hybridation Genomique Comparative Sur Puces (puces A ADN) French

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1p36 Syndrome De La Deletion 1p36 French

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TBR1 Syndrome lie a TBR1 French

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10q25 and 10q26 deletions Swedish

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10p Proximal Deletions From 10p11 And 10p12 Russian

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10q Duplications Russian

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2q13 microduplications Russian

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11q Deletion Disorder Jacobsen Syndrome Russian

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13q Deletions Including RB1 Russian

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WHS Russian

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9p Coexisting Duplication and Deletion Russian

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15q11.2 microduplications Russian

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10q11.22q11.23 Deletions and Microdeletions My Chromosome Story

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XYY Greek

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Inversions Greek

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Balanced Translocations Greek

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13q Distal Interstitial Deletions Russian

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13q Deletions Various Russian

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1q4 Deletions Russian

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14q11.2 Deletions Russian

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2q37 Deletion Syndrome Russian

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6p Duplications Russian

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4p Duplications Russian

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4p 8p Translocation Russian

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3p26 Deletions Russian

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3p25 Deletions Russian

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2q37 Deletions Adults And Adolescents Russian

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22q13 Deletions Phelan McDermid Syndrome Russian

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14q13 Deletions Russian

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1p36 Deletions Russian

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18q Deletions From 18q21 And Beyond Russian

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17p Duplications Russian

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16p13.3 Duplications And Microduplications Russian

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45X 46XY Including Y Chromosome Rearrangements

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15q11q13 Duplications Russian

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Duplications of 9p Russian

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Emanuel Syndrome Russian

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XXXXY syndrome My Chromosome Story

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Koolen-De-Vries Syndrome Russian

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Triple_X_Syndrome_Trisomy_X_Russian

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Tetrasomy_X_Russian

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Tetrasomy 9p Russian

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Ring 21 Russian

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Ring 18 Russian

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PURA And 5q31 Russian

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9p Duplication Syndrome My Chromosome Story

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Norrie Disease Russian

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Kleefstra Syndrome And Mental Health Russian

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Kleefstra Syndrome Russian

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Idic 15 Russian

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2q23.1 Microdeletion Syndrome Arabic

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16p11.2 Microdeletions Arabic

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Deletions Including The End Of 13q Russian

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XYY Russian

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6q Deletions 6q De 6q26 A 6q27 Francais

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Deletions From 6p25 And The End Of The Chromosome

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Bohring-Opitz syndrome (BOS) Russian

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Supernumerary Chromosome 8

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15q13.1q13.2 Deletions My Chromosome Story

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Isochromosome 18p Russian

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Supernumerary Ring Chromosome 1

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17q12 microdeletions Chinese

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Duplications of 2p Russian

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KAT6A syndrome Russian

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2q13 Microdeletions My Chromosome Story

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15q11q13 Duplications My Chromosome Story

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SYNGAP1 syndrome Russian

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