UNIQUE | UNDERSTANDING RARE CHROMOSOME AND GENE DISORDERSDISORDER GUIDESFAMILIESPROFESSIONALSSUPPORT USWHO WE ARERESOURCES An excellent understanding of human genetics, genomics & medical terminology is essential and experience of counselling families with genetic/genomic disorders would be desirable. We Are Unique! Unique is a small charity supporting, informing and networking with families living with a Rare Chromosome Disorder or some Autosomal Dominant

Single

BAINBRIDGE ROPERS SYNDROME (BRPS) 2 What is Bainbridge-Ropers syndrome? Bainbridge-Ropers syndrome (BRPS) is a rare genetic condition that results from a change in function of a gene called ASXL3. 10Q11.22Q11.23 DELETIONS AND MICRODELETIONS 2 10q11.22q11.23 microdeletions A 10q11.2q11.23 microdeletion is a rare genetic condition caused by the loss of a small piece of genetic material from one of the body’s 46 chromosomes – 16P11.2 MICRODUPLICATIONS 4 when possible (this duplication is sometimes referred to as BP2-BP3). In 2020, over 50 people with a 16p11.2 distal microduplication (and no additional genetic diagnosis) 22Q11.2 DUPLICATIONS 22 3 What is a 22q11.2 duplication? A 22q11.2 duplication is a genetic variation in which there is an extra copy of a small piece of

chromosome

2P16.3 (NRXN1) DELETIONS 2 2p16.3 (NRXN1) deletions A 2p16.3 deletion is a rare genetic condition caused by a tiny missing part of one of the body’s 46 chromosomes – chromosome 2.

2P DELETIONS FTNP

2 Everything she does is special. I could write an entire book on all the things she has contributed to our life. She is an absolute joy and blessing and I can’t imagine my life 15Q26 DELETIONS FTNW 4 2. 22.. 2. 46,XY,del(15)(q26.2q26.3) This shows that the expected number of chromosomes ( 46 ) were found. It shows that an X and a Y chromosome were found, so this is a boy/ man. del 2Q33.1 DELETIONS AND OTHER DELETIONS BETWEEN 2Q31 AND 2Q33 2 Deletions between 2q31 and 2q33 A chromosome deletion means that a part of one of the body’s chromosomes has been lost or deleted. If the missing chromosome material contains important genes, TUBA1A ASSOCIATED TUBULINOPATHY TUBA1A - associated tubulinopathy is caused by specific changes (known as pathogenic variants) to a gene called TUBA1A (TUBA1A is an abbreviation of the gene’s full UNIQUE | UNDERSTANDING RARE CHROMOSOME AND GENE DISORDERSDISORDER GUIDESFAMILIESPROFESSIONALSSUPPORT USWHO WE ARERESOURCES An excellent understanding of human genetics, genomics & medical terminology is essential and experience of counselling families with genetic/genomic disorders would be desirable. We Are Unique! Unique is a small charity supporting, informing and networking with families living with a Rare Chromosome Disorder or some Autosomal Dominant

Single

BAINBRIDGE ROPERS SYNDROME (BRPS) 2 What is Bainbridge-Ropers syndrome? Bainbridge-Ropers syndrome (BRPS) is a rare genetic condition that results from a change in function of a gene called ASXL3. 10Q11.22Q11.23 DELETIONS AND MICRODELETIONS 2 10q11.22q11.23 microdeletions A 10q11.2q11.23 microdeletion is a rare genetic condition caused by the loss of a small piece of genetic material from one of the body’s 46 chromosomes – 16P11.2 MICRODUPLICATIONS 4 when possible (this duplication is sometimes referred to as BP2-BP3). In 2020, over 50 people with a 16p11.2 distal microduplication (and no additional genetic diagnosis) 22Q11.2 DUPLICATIONS 22 3 What is a 22q11.2 duplication? A 22q11.2 duplication is a genetic variation in which there is an extra copy of a small piece of

chromosome

2P16.3 (NRXN1) DELETIONS 2 2p16.3 (NRXN1) deletions A 2p16.3 deletion is a rare genetic condition caused by a tiny missing part of one of the body’s 46 chromosomes – chromosome 2.

2P DELETIONS FTNP

2 Everything she does is special. I could write an entire book on all the things she has contributed to our life. She is an absolute joy and blessing and I can’t imagine my life 15Q26 DELETIONS FTNW 4 2. 22.. 2. 46,XY,del(15)(q26.2q26.3) This shows that the expected number of chromosomes ( 46 ) were found. It shows that an X and a Y chromosome were found, so this is a boy/ man. del 2Q33.1 DELETIONS AND OTHER DELETIONS BETWEEN 2Q31 AND 2Q33 2 Deletions between 2q31 and 2q33 A chromosome deletion means that a part of one of the body’s chromosomes has been lost or deleted. If the missing chromosome material contains important genes, TUBA1A ASSOCIATED TUBULINOPATHY TUBA1A - associated tubulinopathy is caused by specific changes (known as pathogenic variants) to a gene called TUBA1A (TUBA1A is an abbreviation of the gene’s full

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RARECHROMO

2 A 16p12.2 microdeletion is a rare genetic condition caused by a tiny missing part of one of the body’s 46 chromosomes – chromosome 16.

For healthy

RARECHROMO

2 What is an inversion? An inversion in a chromosome occurs when a piece of chromosome breaks off, turns round 180 degrees and reinserts itself back into the same chromosome. 1Q21.1 MICRODUPLICATIONS 2 A 1q21.1 microduplication is a very rare genetic condition in which a tiny extra piece of one of the chromosomes is found in the cells of

the body.

15Q11.2 MICRODELETIONS 2 15q11.2 deletions A 15q11.2 deletion is a very rare genetic variation in which there is a tiny piece of chromosome 15 missing. The deletion is found at a place called q11.2.

2P DELETIONS FTNP

2 Everything she does is special. I could write an entire book on all the things she has contributed to our life. She is an absolute joy and blessing and I can’t imagine my life

7Q36 DELETIONS FTNW

4 at 32 weeks, another four weeks early. Among five babies with a deletion extending beyond band 36, one arrived five weeks early, while another was born four weeks late (U).

DUPLICATIONS OF 6P

4 Your baby at birth Although some babies are born normally at term after an uneventful pregnancy, there is a significant risk that birth will need to be medically managed.

3P25 DELETIONS

4 Proximal 3p25.3 deletions (see pages 25-30) More recently, a number of children with deletions further away from the centre of chromosome 3 at position 3p25.3 have been identified. ASSOCIATED LINKED ID SYNDROME rarechromo.orgNONO NONO-associated X-linked ID syndrome Rare Chromosome Disorder Support Group Charity Number 1110661 Registered in England and Wales Company Number 5460413 UNIQUE | UNDERSTANDING RARE CHROMOSOME AND GENE DISORDERSDISORDER GUIDESFAMILIESPROFESSIONALSSUPPORT USWHO WE ARERESOURCES An excellent understanding of human genetics, genomics & medical terminology is essential and experience of counselling families with genetic/genomic disorders would be desirable. We Are Unique! Unique is a small charity supporting, informing and networking with families living with a Rare Chromosome Disorder or some Autosomal Dominant

Single

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 down to the bottom of the ‘Chromosome Disorder Guides – English’ table to view guides and reports on a wide range of related general topics like DNA sequencing, deletions and 15Q11.2 MICRODELETIONS 2 15q11.2 deletions A 15q11.2 deletion is a very rare genetic variation in which there is a tiny piece of chromosome 15 missing. The deletion is found at a place called q11.2. 22Q11.2 DUPLICATIONS 22 3 What is a 22q11.2 duplication? A 22q11.2 duplication is a genetic variation in which there is an extra copy of a small piece of

chromosome

16P11.2 MICRODUPLICATIONS 4 when possible (this duplication is sometimes referred to as BP2-BP3). In 2020, over 50 people with a 16p11.2 distal microduplication (and no additional genetic diagnosis) 15Q13.3 MICRODELETION 2 15q13.3 microdeletion syndrome A 15q13.3 microdeletion is a rare genetic condition caused by a tiny missing part of one of the body’s 46 chromosomes – chromosome 2P16.3 (NRXN1) DELETIONS 2 2p16.3 (NRXN1) deletions A 2p16.3 deletion is a rare genetic condition caused by a tiny missing part of one of the body’s 46 chromosomes – chromosome 2. BAINBRIDGE ROPERS SYNDROME (BRPS) 2 What is Bainbridge-Ropers syndrome? Bainbridge-Ropers syndrome (BRPS) is a rare genetic condition that results from a change in function of a gene called ASXL3. 7Q11.23 DUPLICATION SYNDROME 2 7q11.23 duplication syndrome A 7q11.23 duplication means that the cells of the body have a small amount of additional genetic material from one of their 46 TUBA1A ASSOCIATED TUBULINOPATHY TUBA1A - associated tubulinopathy is caused by specific changes (known as pathogenic variants) to a gene called TUBA1A (TUBA1A is an abbreviation of the gene’s full UNIQUE | UNDERSTANDING RARE CHROMOSOME AND GENE DISORDERSDISORDER GUIDESFAMILIESPROFESSIONALSSUPPORT USWHO WE ARERESOURCES An excellent understanding of human genetics, genomics & medical terminology is essential and experience of counselling families with genetic/genomic disorders would be desirable. We Are Unique! Unique is a small charity supporting, informing and networking with families living with a Rare Chromosome Disorder or some Autosomal Dominant

Single

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 down to the bottom of the ‘Chromosome Disorder Guides – English’ table to view guides and reports on a wide range of related general topics like DNA sequencing, deletions and 15Q11.2 MICRODELETIONS 2 15q11.2 deletions A 15q11.2 deletion is a very rare genetic variation in which there is a tiny piece of chromosome 15 missing. The deletion is found at a place called q11.2. 22Q11.2 DUPLICATIONS 22 3 What is a 22q11.2 duplication? A 22q11.2 duplication is a genetic variation in which there is an extra copy of a small piece of

chromosome

16P11.2 MICRODUPLICATIONS 4 when possible (this duplication is sometimes referred to as BP2-BP3). In 2020, over 50 people with a 16p11.2 distal microduplication (and no additional genetic diagnosis) 15Q13.3 MICRODELETION 2 15q13.3 microdeletion syndrome A 15q13.3 microdeletion is a rare genetic condition caused by a tiny missing part of one of the body’s 46 chromosomes – chromosome 2P16.3 (NRXN1) DELETIONS 2 2p16.3 (NRXN1) deletions A 2p16.3 deletion is a rare genetic condition caused by a tiny missing part of one of the body’s 46 chromosomes – chromosome 2. BAINBRIDGE ROPERS SYNDROME (BRPS) 2 What is Bainbridge-Ropers syndrome? Bainbridge-Ropers syndrome (BRPS) is a rare genetic condition that results from a change in function of a gene called ASXL3. 7Q11.23 DUPLICATION SYNDROME 2 7q11.23 duplication syndrome A 7q11.23 duplication means that the cells of the body have a small amount of additional genetic material from one of their 46 TUBA1A ASSOCIATED TUBULINOPATHY TUBA1A - associated tubulinopathy is caused by specific changes (known as pathogenic variants) to a gene called TUBA1A (TUBA1A is an abbreviation of the gene’s full UNIQUE | UNDERSTANDING RARE CHROMOSOME AND GENE DISORDERS An excellent understanding of human genetics, genomics & medical terminology is essential and experience of counselling families with genetic/genomic disorders would be desirable. We Are Unique! Unique is a small charity supporting, informing and networking with families living with a Rare Chromosome Disorder or some Autosomal Dominant

Single

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 down to the bottom of the ‘Chromosome Disorder Guides – English’ table to view guides and reports on a wide range of related general topics like DNA sequencing, deletions and

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APPLY TO BECOME A MEMBER. If you would like to register on our confidential database for a Unique Family Membership or for a Professional Membership please complete the application form below and make sure to tick/check the consent box or we'll not be able to

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10Q11.22Q11.23 DELETIONS AND MICRODELETIONS 2 10q11.22q11.23 microdeletions A 10q11.2q11.23 microdeletion is a rare genetic condition caused by the loss of a small piece of genetic material from one of the body’s 46 chromosomes – 1Q21.1 MICRODUPLICATIONS 4 Array CGH report The laboratory that finds the 1q21.1 microduplication will send a report that usually looks like one of these: arr 1q21.1(146701190-147623589)x3 17P13.3 MICRODELETIONS 2 17p13.3 microdeletions A 17p13.3 microdeletion is a rare disorder in which a small part of the genetic material that makes up one of the

body’s 46

4P DUPLICATIONS

4 Families Feeding difficulties in the newborn period. Very small eyes, sometimes with a developmental defect known as a coloboma. In the iris this looks like a keyhole. The features in the list that follows have also been noticed in 14Q12 DELETIONS FTNW 2 14q12 deletions 14q12 deletions A chromosome 14 deletion means that part of one of the body’s chromosomes (chromosome 14) has been lost

or deleted.

UNIPARENTAL DISOMY 14 (UPD14) 3 Main features When the chromosome 14s come from the mother – mUPD14 or UPD14mat These are typical features for the syndrome. Individual children will have some but probably not all the features 2Q33.1 DELETIONS AND OTHER DELETIONS BETWEEN 2Q31 AND 2Q33 2 Deletions between 2q31 and 2q33 A chromosome deletion means that a part of one of the body’s chromosomes has been lost or deleted. If the missing chromosome material contains important genes, UNIQUE | UNDERSTANDING RARE CHROMOSOME AND GENE DISORDERSDISORDER GUIDESFAMILIESPROFESSIONALSSUPPORT USWHO WE ARERESOURCES An excellent understanding of human genetics, genomics & medical terminology is essential and experience of counselling families with genetic/genomic disorders would be desirable. We Are Unique! Unique is a small charity supporting, informing and networking with families living with a Rare Chromosome Disorder or some Autosomal Dominant

Single

22Q11.2 DUPLICATIONS 22 3 What is a 22q11.2 duplication? A 22q11.2 duplication is a genetic variation in which there is an extra copy of a small piece of

chromosome

1Q21.1 MICRODUPLICATIONS 2 A 1q21.1 microduplication is a very rare genetic condition in which a tiny extra piece of one of the chromosomes is found in the cells of

the body.

22Q11.2 DELETION SYNDROME (VELO CARDIO FACIAL SYNDROME) 5 Most common features Every person with VCFS is unique and so each person will have different medical and developmental concerns. There is an enormous variability in the effects of a 22q11.2 2P16.3 (NRXN1) DELETIONS 2 2p16.3 (NRXN1) deletions A 2p16.3 deletion is a rare genetic condition caused by a tiny missing part of one of the body’s 46 chromosomes – chromosome 2. 8P23 DELETION SYNDROME 3 The first description of a person with an 8p23 deletion was in 1988. There have since been more than 70 people with a ‘pure’ 8p23

deletion (no other

BAINBRIDGE ROPERS SYNDROME (BRPS) 2 What is Bainbridge-Ropers syndrome? Bainbridge-Ropers syndrome (BRPS) is a rare genetic condition that results from a change in function of a gene called ASXL3.

15Q DELETIONS FTNW

2 15q deletions A chromosome 15q deletion is a rare genetic condition in which there is a missing copy of part of the genetic material that makes up one of the body’s 46 chromosomes. 2Q33.1 DELETIONS AND OTHER DELETIONS BETWEEN 2Q31 AND 2Q33 2 Deletions between 2q31 and 2q33 A chromosome deletion means that a part of one of the body’s chromosomes has been lost or deleted. If the missing chromosome material contains important genes,

RHOBTB2 SYNDROME

RHOBTB2 syndrome is caused by specific changes (known as missense variants) to a gene called RHOBTB2. The RHOBTB2 gene is located on the

short ‘p’

UNIQUE | UNDERSTANDING RARE CHROMOSOME AND GENE DISORDERSDISORDER GUIDESFAMILIESPROFESSIONALSSUPPORT USWHO WE ARERESOURCES An excellent understanding of human genetics, genomics & medical terminology is essential and experience of counselling families with genetic/genomic disorders would be desirable. We Are Unique! Unique is a small charity supporting, informing and networking with families living with a Rare Chromosome Disorder or some Autosomal Dominant

Single

22Q11.2 DUPLICATIONS 22 3 What is a 22q11.2 duplication? A 22q11.2 duplication is a genetic variation in which there is an extra copy of a small piece of

chromosome

1Q21.1 MICRODUPLICATIONS 2 A 1q21.1 microduplication is a very rare genetic condition in which a tiny extra piece of one of the chromosomes is found in the cells of

the body.

22Q11.2 DELETION SYNDROME (VELO CARDIO FACIAL SYNDROME) 5 Most common features Every person with VCFS is unique and so each person will have different medical and developmental concerns. There is an enormous variability in the effects of a 22q11.2 2P16.3 (NRXN1) DELETIONS 2 2p16.3 (NRXN1) deletions A 2p16.3 deletion is a rare genetic condition caused by a tiny missing part of one of the body’s 46 chromosomes – chromosome 2. 8P23 DELETION SYNDROME 3 The first description of a person with an 8p23 deletion was in 1988. There have since been more than 70 people with a ‘pure’ 8p23

deletion (no other

BAINBRIDGE ROPERS SYNDROME (BRPS) 2 What is Bainbridge-Ropers syndrome? Bainbridge-Ropers syndrome (BRPS) is a rare genetic condition that results from a change in function of a gene called ASXL3.

15Q DELETIONS FTNW

2 15q deletions A chromosome 15q deletion is a rare genetic condition in which there is a missing copy of part of the genetic material that makes up one of the body’s 46 chromosomes. 2Q33.1 DELETIONS AND OTHER DELETIONS BETWEEN 2Q31 AND 2Q33 2 Deletions between 2q31 and 2q33 A chromosome deletion means that a part of one of the body’s chromosomes has been lost or deleted. If the missing chromosome material contains important genes,

RHOBTB2 SYNDROME

RHOBTB2 syndrome is caused by specific changes (known as missense variants) to a gene called RHOBTB2. The RHOBTB2 gene is located on the

short ‘p’

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 down to the bottom of the ‘Chromosome Disorder Guides – English’ table to view guides and reports on a wide range of related general topics like DNA sequencing, deletions and

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APPLY TO BECOME A MEMBER. If you would like to register on our confidential database for a Unique Family Membership or for a Professional Membership please complete the application form below and make sure to tick/check the consent box or we'll not be able to

contact you.

1Q21.1 MICRODUPLICATIONS 4 Array CGH report The laboratory that finds the 1q21.1 microduplication will send a report that usually looks like one of these: arr 1q21.1(146701190-147623589)x3 15Q11.2 MICRODUPLICATIONS 2 15q11.2 microduplications A 15q11.2 microduplication is a rare genetic condition caused by the duplication of a small piece of genetic material from one of the body’s 46 chromosomes –

RARECHROMO

6 “ Communication is coming: he uses speech, signing, vocal noises, and at school a picture exchange schedule. He spoke his first words around 4 but they were not clear until 5 years 10 months. By 5, he was using 2/3 word phrases and occasionally 4/5 word 3Q13 DELETIONS AND MICRODELETIONS 5 and ends at 114.4 Mb. Some people have very similar deletions with break points in 3q13.2 at 112.1 Mb and in 3q13.31 at 115.5 Mb. They have lost about 3.4 Mb of 15Q24 MICRODELETION SYNDROME 2 15q24 microdeletion syndrome The information in A 15q24 microdeletion is a very rare genetic condition in which a tiny piece is missing from one of the 46 chromosomes 22Q12 AND 22Q13 DUPLICATIONS 2 Duplications of 22q12 and 22q13 A duplication of 22q12 and/or 22q13 is a very rare genetic condition in which the cells of the body have a small but variable amount of extra genetic material from one of the

10P DELETIONS FTNW

5 by the age of 10, this was no longer immediately noticeable. Another baby with a deletion from near the tip of 10p was born with early

fusion of

VARIABLE EXPRESSIVITY & REDUCED PENETRANCE rarechromo.org Variable Expressivity & Reduced Penetrance Learning disability & developmental delayfeatures and symptoms and range of severity for each Rare Chromosome Disorder Support Group Charity

Number 1110661

UNIQUE | UNDERSTANDING RARE CHROMOSOME AND GENE DISORDERSDISORDER GUIDESFAMILIESPROFESSIONALSSUPPORT USWHO WE ARERESOURCES An excellent understanding of human genetics, genomics & medical terminology is essential and experience of counselling families with genetic/genomic disorders would be desirable. We Are Unique! Unique is a small charity supporting, informing and networking with families living with a Rare Chromosome Disorder or some Autosomal Dominant

Single

22Q11.2 DUPLICATIONS 22 3 What is a 22q11.2 duplication? A 22q11.2 duplication is a genetic variation in which there is an extra copy of a small piece of

chromosome

1Q21.1 MICRODUPLICATIONS 2 A 1q21.1 microduplication is a very rare genetic condition in which a tiny extra piece of one of the chromosomes is found in the cells of

the body.

22Q11.2 DELETION SYNDROME (VELO CARDIO FACIAL SYNDROME) 5 Most common features Every person with VCFS is unique and so each person will have different medical and developmental concerns. There is an enormous variability in the effects of a 22q11.2 2P16.3 (NRXN1) DELETIONS 2 2p16.3 (NRXN1) deletions A 2p16.3 deletion is a rare genetic condition caused by a tiny missing part of one of the body’s 46 chromosomes – chromosome 2. 8P23 DELETION SYNDROME 3 The first description of a person with an 8p23 deletion was in 1988. There have since been more than 70 people with a ‘pure’ 8p23

deletion (no other

BAINBRIDGE ROPERS SYNDROME (BRPS) 2 What is Bainbridge-Ropers syndrome? Bainbridge-Ropers syndrome (BRPS) is a rare genetic condition that results from a change in function of a gene called ASXL3.

15Q DELETIONS FTNW

2 15q deletions A chromosome 15q deletion is a rare genetic condition in which there is a missing copy of part of the genetic material that makes up one of the body’s 46 chromosomes. 2Q33.1 DELETIONS AND OTHER DELETIONS BETWEEN 2Q31 AND 2Q33 2 Deletions between 2q31 and 2q33 A chromosome deletion means that a part of one of the body’s chromosomes has been lost or deleted. If the missing chromosome material contains important genes,

RHOBTB2 SYNDROME

RHOBTB2 syndrome is caused by specific changes (known as missense variants) to a gene called RHOBTB2. The RHOBTB2 gene is located on the

short ‘p’

UNIQUE | UNDERSTANDING RARE CHROMOSOME AND GENE DISORDERSDISORDER GUIDESFAMILIESPROFESSIONALSSUPPORT USWHO WE ARERESOURCES An excellent understanding of human genetics, genomics & medical terminology is essential and experience of counselling families with genetic/genomic disorders would be desirable. We Are Unique! Unique is a small charity supporting, informing and networking with families living with a Rare Chromosome Disorder or some Autosomal Dominant

Single

22Q11.2 DUPLICATIONS 22 3 What is a 22q11.2 duplication? A 22q11.2 duplication is a genetic variation in which there is an extra copy of a small piece of

chromosome

1Q21.1 MICRODUPLICATIONS 2 A 1q21.1 microduplication is a very rare genetic condition in which a tiny extra piece of one of the chromosomes is found in the cells of

the body.

22Q11.2 DELETION SYNDROME (VELO CARDIO FACIAL SYNDROME) 5 Most common features Every person with VCFS is unique and so each person will have different medical and developmental concerns. There is an enormous variability in the effects of a 22q11.2 2P16.3 (NRXN1) DELETIONS 2 2p16.3 (NRXN1) deletions A 2p16.3 deletion is a rare genetic condition caused by a tiny missing part of one of the body’s 46 chromosomes – chromosome 2. 8P23 DELETION SYNDROME 3 The first description of a person with an 8p23 deletion was in 1988. There have since been more than 70 people with a ‘pure’ 8p23

deletion (no other

BAINBRIDGE ROPERS SYNDROME (BRPS) 2 What is Bainbridge-Ropers syndrome? Bainbridge-Ropers syndrome (BRPS) is a rare genetic condition that results from a change in function of a gene called ASXL3.

15Q DELETIONS FTNW

2 15q deletions A chromosome 15q deletion is a rare genetic condition in which there is a missing copy of part of the genetic material that makes up one of the body’s 46 chromosomes. 2Q33.1 DELETIONS AND OTHER DELETIONS BETWEEN 2Q31 AND 2Q33 2 Deletions between 2q31 and 2q33 A chromosome deletion means that a part of one of the body’s chromosomes has been lost or deleted. If the missing chromosome material contains important genes,

RHOBTB2 SYNDROME

RHOBTB2 syndrome is caused by specific changes (known as missense variants) to a gene called RHOBTB2. The RHOBTB2 gene is located on the

short ‘p’

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 down to the bottom of the ‘Chromosome Disorder Guides – English’ table to view guides and reports on a wide range of related general topics like DNA sequencing, deletions and

DONOR DASHBOARD

APPLY TO BECOME A MEMBER. If you would like to register on our confidential database for a Unique Family Membership or for a Professional Membership please complete the application form below and make sure to tick/check the consent box or we'll not be able to

contact you.

1Q21.1 MICRODUPLICATIONS 4 Array CGH report The laboratory that finds the 1q21.1 microduplication will send a report that usually looks like one of these: arr 1q21.1(146701190-147623589)x3 15Q11.2 MICRODUPLICATIONS 2 15q11.2 microduplications A 15q11.2 microduplication is a rare genetic condition caused by the duplication of a small piece of genetic material from one of the body’s 46 chromosomes –

RARECHROMO

6 “ Communication is coming: he uses speech, signing, vocal noises, and at school a picture exchange schedule. He spoke his first words around 4 but they were not clear until 5 years 10 months. By 5, he was using 2/3 word phrases and occasionally 4/5 word 3Q13 DELETIONS AND MICRODELETIONS 5 and ends at 114.4 Mb. Some people have very similar deletions with break points in 3q13.2 at 112.1 Mb and in 3q13.31 at 115.5 Mb. They have lost about 3.4 Mb of 15Q24 MICRODELETION SYNDROME 2 15q24 microdeletion syndrome The information in A 15q24 microdeletion is a very rare genetic condition in which a tiny piece is missing from one of the 46 chromosomes 22Q12 AND 22Q13 DUPLICATIONS 2 Duplications of 22q12 and 22q13 A duplication of 22q12 and/or 22q13 is a very rare genetic condition in which the cells of the body have a small but variable amount of extra genetic material from one of the

10P DELETIONS FTNW

5 by the age of 10, this was no longer immediately noticeable. Another baby with a deletion from near the tip of 10p was born with early

fusion of

VARIABLE EXPRESSIVITY & REDUCED PENETRANCE rarechromo.org Variable Expressivity & Reduced Penetrance Learning disability & developmental delayfeatures and symptoms and range of severity for each Rare Chromosome Disorder Support Group Charity

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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...

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NEW PICTURE BOOK FOR CHILDREN We’ve just published a brand new picture book for children....

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2019 - THE YEAR IN NUMBERS It’s been another very busy year for Unique – welcoming...

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Today's #ShiningStar is Myah. Her mum, Michelle, Families in the USA: NORD (@nord_rare) launches F The latest guide to be updated is 49,XXXXY / #XXXX TWO MONTHS TO GO! Rare Chromosome & Gene Dis

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PLEASE HELP US CARRY ON BY MAKING A DONATION TODAY Only with your help at this time of uncertainty can we go on providing information and support to anyone affected by rare chromosome and gene disorders. All donations, however large or small, make a real and lasting difference. THANK YOU FOR YOUR GENEROSITY!

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15 Apr

The latest guide from @Unique_charity to be updated is 49,XXXXY/ #XXXXYsyndrome can be found on our website at https://www.rarechromo.org/disorder-guides. We're grateful to the many #geneticists who kindly help to write &

review our guides.

#Genetics #Genomics

#ExtraChromosome

Unique @Unique_charity

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14 Apr

TWO MONTHS TO GO!

Rare Chromosome & Gene Disorder Awareness Week is just two months away! Please get thinking about creative & virtual ways to raise awareness this year, we need it more than ever! https://www.rarechromo.org #ShineBrightTogether #AwarenessWeek #RareChromo Unique @Unique_charity

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14 Apr

New Coronavirus (COVID-19) guidance for people living with a rare genetic disorder is now available on @Unique_charity

website at

https://www.rarechromo.org/covid19update. With thanks to @BritSocGenMed @clingensoc & @theAGNC for producing the new info sheets.

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