Redland Reflexology | The Process of Ageing

CHROMOSOMES & DNA

What diseases or ailments are associated with chromosomes?

Source of information is AI via CoPilot.This information is only a guide and may be inaccurate.
The Redland Reflexology Body Frequency Analyser checks Chromosomes and reports on their frequency health and imbalances.

CHROMOSOMES 1 to 12

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Chromosome 1 is the largest human chromosome and is associated with a variety of diseases and conditions due to its susceptibility to genetic variations. Here are some notable disorders linked to abnormalities in chromosome 1:

1. **1p36 Deletion Syndrome**: This condition is caused by a deletion of genetic material from the short arm (p arm) of chromosome 1. It can lead to distinctive facial features, developmental delays, intellectual disabilities, seizures, vision and hearing problems, congenital heart defects, and renal abnormalities¹².

2. **Neuroblastoma**: This is a type of cancer that originates in immature nerve cells. Deletions in the short arm of chromosome 1 (1p36) are associated with the development of neuroblastoma¹.

3. **1q21.1 Microdeletion and Microduplication**: These conditions involve the deletion or duplication of a small piece of the long arm (q arm) of chromosome 1. They can result in developmental delays, intellectual disabilities, physical abnormalities, and neurological or psychiatric problems².

4. **Various Cancers and Mendelian Disorders**: More than 350 diseases, including various cancers and Mendelian disorders, have been linked to abnormalities in the sequence of chromosome 1⁴.

Source: Conversation with Copilot, 13/09/2024
(1) Common Chromosomal Disorders (Chromosomes 1-5 and X and Y). https://www.news-medical.net/health/Common-Chromosomal-Disorders-%28Chromosomes-1-5-and-X-and-Y%29.aspx.
(2) Chromosome 1 - MedlinePlus. https://medlineplus.gov/genetics/chromosome/1/.
(3) What is Chromosome 1? - News-Medical.net. https://www.news-medical.net/health/What-is-Chromosome-1.aspx.
(4) Genetic Disorders: What Are They, Types, Symptoms & Causes. https://bing.com/search?q=diseases+associated+with+chromosome+1.
(5) Overview of Chromosome and Gene Disorders - Overview of Chromosome and .... https://www.merckmanuals.com/home/children-s-health-issues/chromosome-and-gene-abnormalities/overview-of-chromosome-and-gene-disorders.

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Chromosome 2 is the second-largest human chromosome and is associated with several genetic disorders and conditions. Here are some notable ones:

1. **2q37 Deletion Syndrome**: This condition is caused by a deletion of genetic material near the end of the long arm (q arm) of chromosome 2. It can lead to intellectual disability, behavioral problems, obesity, and skeletal abnormalities, including unusually short fingers and toes (brachydactyly)¹.

2. **MBD5-Associated Neurodevelopmental Disorder (MAND)**: This disorder is caused by deletions or duplications at position 2q23.1. It affects neurological and physical development, leading to intellectual disability, developmental delay, impaired speech, sleep problems, and distinctive facial features¹.

3. **Maturity-Onset Diabetes of the Young (MODY)**: This form of diabetes is linked to gene abnormalities on chromosome 2. It typically presents in adolescence or early adulthood and is characterized by impaired insulin production².

4. **Primary Pulmonary Hypertension**: This condition involves high blood pressure in the lungs' arteries and is associated with genetic changes on chromosome 2².

5. **Autism**: Some cases of autism have been linked to genetic abnormalities on chromosome 2².

¹: [MedlinePlus](https://medlineplus.gov/genetics/chromosome/2/)
²: [News-Medical.net](https://www.news-medical.net/health/What-is-Chromosome-2.aspx)

Source: Conversation with Copilot, 13/09/2024
(1) Chromosome 2 - MedlinePlus. https://medlineplus.gov/genetics/chromosome/2/.
(2) Chromosome 2 - Wikipedia. https://en.wikipedia.org/wiki/Chromosome_2.
(3) Genetic Disorders: What Are They, Types, Symptoms & Causes. https://bing.com/search?q=diseases+associated+with+chromosome+2.
(4) What is Chromosome 2? - News-Medical.net. https://www.news-medical.net/health/What-is-Chromosome-2.aspx.

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Chromosome 3 is associated with several genetic disorders and conditions. Here are some notable ones:

1. **3p Deletion Syndrome**: This condition is caused by the deletion of genetic material from the short arm (p arm) of chromosome 3. It can lead to intellectual disabilities, developmental delays, and physical abnormalities⁴.

2. **3q29 Microdeletion Syndrome**: This involves the deletion of a small piece of the long arm (q arm) of chromosome 3. It can result in developmental delays, intellectual disabilities, and distinctive facial features⁴.

3. **Trisomy 3q2**: This rare chromosomal disorder involves a portion of the 3rd chromosome appearing three times (trisomy) instead of twice. It can lead to developmental delays, intellectual disabilities, and distinctive craniofacial abnormalities¹.

Source: Conversation with Copilot, 13/09/2024
(1) Common Chromosomal Disorders (Chromosomes 1-5 and X and Y). https://www.news-medical.net/health/Common-Chromosomal-Disorders-%28Chromosomes-1-5-and-X-and-Y%29.aspx.
(2) Chromosome 3, Trisomy 3q2 - Symptoms, Causes, Treatment | NORD. https://rarediseases.org/rare-diseases/chromosome-3-trisomy-3q2/.
(3) Chromosome 3 - Wikipedia. https://en.wikipedia.org/wiki/Chromosome_3.
(4) Types of Trisomy: Causes and Symptoms - Verywell Health. https://www.verywellhealth.com/other-trisomies-in-humans-1120490.
(5) Trisomy: Types of Trisomy Disorders - Cleveland Clinic. https://my.clevelandclinic.org/health/diseases/22912-trisomy.

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Chromosome 4 is associated with several genetic disorders and conditions. Here are some notable ones:

1. **Facioscapulohumeral Muscular Dystrophy (FSHD)**: This condition is primarily a muscle disorder where muscle wasting occurs in the face, shoulder blades, and upper arms. It is caused by genetic changes in the long arm (q arm) of chromosome 4 at position 4q35¹².

2. **Wolf-Hirschhorn Syndrome**: This complex syndrome is characterized by delayed growth, intellectual disabilities, seizures, and distinctive facial features. It is caused by a deletion at the end of the short arm (p arm) of chromosome 4 at position 4p16.3¹².

3. **Cancers**: Gene mutations on chromosome 4 have been linked to several types of cancer, including leukemias and other cancers involving blood-forming cells³⁴.

4. **Neurological and Neurodegenerative Disorders**: Conditions such as Parkinson's disease, Huntington's disease, and narcolepsy have been associated with gene mutations on chromosome 4³.

¹: [News-Medical.net](https://www.news-medical.net/health/Chromosome-4-Related-Diseases.aspx)
²: [MedlinePlus](https://medlineplus.gov/genetics/chromosome/4/)
³: [News-Medical.net](https://www.news-medical.net/health/What-is-Chromosome-4.aspx)
⁴: [MedlinePlus](https://medlineplus.gov/download/genetics/chromosome/4.pdf)

Source: Conversation with Copilot, 13/09/2024
(1) Chromosome 4 Related Diseases - News-Medical.net. https://www.news-medical.net/health/Chromosome-4-Related-Diseases.aspx.
(2) Chromosome 4 - MedlinePlus. https://medlineplus.gov/genetics/chromosome/4/.
(3) What is Chromosome 4? - News-Medical.net. https://www.news-medical.net/health/What-is-Chromosome-4.aspx.
(4) Chromosome 4 - MedlinePlus. https://medlineplus.gov/download/genetics/chromosome/4.pdf.

----------------------------------------------------

Chromosome 5 is associated with several genetic disorders and conditions. Here are some notable ones:

1. **Spinal Muscular Atrophy (SMA)**: This is a neuromuscular disease caused by mutations in the SMN1 gene on chromosome 5. It leads to progressive muscle weakness and wasting¹.

2. **Cri du Chat Syndrome**: Also known as 5p- syndrome, this condition is caused by a deletion on the short arm (p arm) of chromosome 5. It is characterized by a high-pitched cry that sounds like a cat, intellectual disability, and distinctive facial features¹².

3. **5q-Syndrome**: This is a type of myelodysplastic syndrome caused by a deletion on the long arm (q arm) of chromosome 5. It leads to anemia, abnormalities in platelet production, and an increased risk of acute myeloid leukemia (AML)¹.

4. **5q31.3 Microdeletion Syndrome**: This condition involves a deletion at position 5q31.3 and is characterized by weak muscle tone, swallowing and breathing difficulties, developmental delays, and distinctive facial features¹.

¹: [News-Medical.net](https://www.news-medical.net/health/Chromosome-5-Related-Diseases.aspx)
²: [Wikipedia](https://en.wikipedia.org/wiki/Chromosome_5)

Source: Conversation with Copilot, 13/09/2024
(1) Chromosome 5 Related Diseases - News-Medical.net. https://www.news-medical.net/health/Chromosome-5-Related-Diseases.aspx.
(2) Chromosome 5 - Wikipedia. https://en.wikipedia.org/wiki/Chromosome_5.
(3) Chromosome 5: Structure, Function, and Genetic Disorders - Austra Health. https://bing.com/search?q=diseases+associated+with+chromosome+5.
(4) Chromosome 5: Structure, Function, and Genetic Disorders - Austra Health. https://www.austrahealth.com.au/chromosome-5.html.

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Chromosome 6 is associated with several genetic disorders and conditions. Here are some notable ones:

1. **Ankylosing Spondylitis**: This is a type of arthritis that primarily affects the spine, causing inflammation, pain, and stiffness. It is linked to the HLA-B gene on chromosome 6³.

2. **Coeliac Disease**: This autoimmune disorder is triggered by the ingestion of gluten and is associated with the HLA-DQA1 and HLA-DQB1 genes on chromosome 6³.

3. **Ehlers-Danlos Syndrome**: This group of connective tissue disorders can cause hypermobility, skin that stretches easily, and a tendency to bruise. It is linked to the Tenascin-X gene on chromosome 6³.

4. **Hemochromatosis**: This condition causes the body to absorb too much iron from the diet, leading to iron overload. It is associated with the HFE gene on chromosome 6³.

5. **21-Hydroxylase Deficiency**: This genetic disorder affects the adrenal glands and can lead to congenital adrenal hyperplasia. It is linked to the CYP21A2 gene on chromosome 6³.

6. **Diabetes Mellitus**: A region on chromosome 6q24 is involved in the development of neonatal diabetes⁶.

7. **Chromosome 6 Ring**: This rare disorder involves the formation of a ring chromosome due to the loss of genetic material from both ends of chromosome 6. It can lead to growth retardation, intellectual disabilities, and various craniofacial abnormalities².

Source: Conversation with Copilot, 13/09/2024
(1) Chromosome 6 - Wikipedia. https://en.wikipedia.org/wiki/Chromosome_6.
(2) Everything You Need to Know About Chromosome 6 | Explained in Detail. https://www.austrahealth.com.au/chromosome-6.html.
(3) Chromosome 6 Ring - Symptoms, Causes, Treatment | NORD. https://rarediseases.org/rare-diseases/chromosome-6-ring/.
(4) Disorders of Chromosome 6 - DoveMed. https://www.dovemed.com/diseases-conditions/disorders-chromosome-6.
(5) A child with intellectual disability and dysmorphism due to complex .... https://ijponline.biomedcentral.com/articles/10.1186/s13052-018-0571-0.
(6) Trisomy-6: The Ying and Yang of Chromosome 6 Aberrations. https://ashpublications.org/blood/article/140/Supplement%201/8648/493075/Trisomy-6-The-Ying-and-Yang-of-Chromosome-6.

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Chromosome 7 is associated with several genetic disorders and conditions. Here are some notable ones:

1. **Cystic Fibrosis**: This is a genetic disorder that affects the respiratory and digestive systems. It is caused by mutations in the CFTR gene on chromosome 7².

2. **Williams Syndrome**: This condition is caused by a deletion of genetic material from the long arm (q arm) of chromosome 7 at position 7q11.23. It leads to developmental delays, cardiovascular problems, and distinctive facial features¹.

3. **7q11.23 Duplication Syndrome**: This condition results from an extra copy of a region on the long arm (q arm) of chromosome 7. It can cause neurological and behavioral problems as well as other abnormalities¹.

4. **Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia (AML)**: Changes in the number or structure of chromosome 7, such as deletions or monosomy 7, are frequently associated with these types of blood cancers³⁴.

¹: [MedlinePlus](https://medlineplus.gov/genetics/chromosome/7/)
²: [Wikipedia](https://en.wikipedia.org/wiki/Chromosome_7)
³: [ASH Publications](https://ashpublications.org/blood/article/131/26/2871/39168/Puzzling-pieces-of-chromosome-7-loss-or-deletion)
⁴: [ASH Publications](https://ashpublications.org/blood/article/131/26/2891/39117/The-enigma-of-monosomy-7)

Source: Conversation with Copilot, 13/09/2024
(1) Chromosome 7 - Wikipedia. https://en.wikipedia.org/wiki/Chromosome_7.
(2) Chromosome 7 - MedlinePlus. https://medlineplus.gov/genetics/chromosome/7/.
(3) Puzzling pieces of chromosome 7 loss or deletion. https://ashpublications.org/blood/article/131/26/2871/39168/Puzzling-pieces-of-chromosome-7-loss-or-deletion.
(4) The enigma of monosomy 7 | Blood - American Society of Hematology. https://ashpublications.org/blood/article/131/26/2891/39117/The-enigma-of-monosomy-7.
(5) Overview of Chromosome and Gene Disorders - Overview of Chromosome and .... https://www.merckmanuals.com/home/children-s-health-issues/chromosome-and-gene-abnormalities/overview-of-chromosome-and-gene-disorders.

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Chromosome 8 is associated with several genetic disorders and conditions. Here are some notable ones:

1. **Monosomy 8p**: This rare chromosomal disorder is characterized by the deletion of a portion of the short arm (p arm) of chromosome 8. It can lead to growth deficiencies, intellectual disabilities, craniofacial malformations, heart abnormalities, and genital defects in males¹.

2. **8q Deletion Syndrome**: This condition involves the deletion of genetic material on the long arm (q arm) of chromosome 8. It can result in intellectual disability, developmental delays, speech and language difficulties, growth abnormalities, and distinctive facial features².

3. **8p Duplication Syndrome**: This condition involves the presence of extra genetic material on the short arm (p arm) of chromosome 8. It can cause developmental delays, intellectual disability, speech and language difficulties, behavioral challenges, and physical abnormalities².

4. **Cancers and Other Conditions**: Mutations on chromosome 8 have been implicated in certain heart defects, some forms of cancer, premature aging syndromes, immune responses, and immune disorders like psoriasis and Crohn's disease³⁴.

¹: [NORD](https://rarediseases.org/rare-diseases/chromosome-8-monosomy-8p/)
²: [DoveMed](https://www.dovemed.com/diseases-conditions/disorders-chromosome-8)
³: [ScienceDaily](https://www.sciencedaily.com/releases/2021/04/210408131448.htm)
⁴: [SciTechDaily](https://scitechdaily.com/complete-chromosome-8-sequence-reveals-new-genes-and-disease-risks/)

Source: Conversation with Copilot, 13/09/2024
(1) Chromosome 8, Monosomy 8p - Symptoms, Causes, Treatment | NORD. https://rarediseases.org/rare-diseases/chromosome-8-monosomy-8p/.
(2) Disorders of Chromosome 8 - DoveMed. https://www.dovemed.com/diseases-conditions/disorders-chromosome-8.
(3) Chromosome 8 assembly reveals novel genes, disease risks. https://bing.com/search?q=diseases+associated+with+chromosome+8.
(4) Chromosome 8 assembly reveals novel genes, disease risks. https://newsroom.uw.edu/news-releases/chromosome-8-assembly-reveals-novel-genes-and-disease-risks.
(5) Complete chromosome 8 sequence reveals novel genes and disease risks. https://www.sciencedaily.com/releases/2021/04/210408131448.htm.
(6) Complete Chromosome 8 Sequence Reveals New Genes and Disease Risks. https://scitechdaily.com/complete-chromosome-8-sequence-reveals-new-genes-and-disease-risks/.

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Chromosome 9 is associated with several genetic disorders and conditions. Here are some notable ones:

1. **9q22.3 Microdeletion Syndrome**: This condition involves the deletion of a small piece of the long arm (q arm) of chromosome 9. It can lead to delayed development, intellectual disability, certain physical abnormalities, and features of Gorlin syndrome¹.

2. **Bladder Cancer**: Deletions of part or all of chromosome 9 are commonly found in bladder cancer. These chromosomal changes are seen only in cancer cells and are associated with both non-muscle invasive and muscle-invasive bladder cancer¹.

3. **Chronic Myelogenous Leukemia (CML)**: This type of cancer is associated with a specific chromosomal abnormality known as the Philadelphia chromosome, which involves a translocation between chromosomes 9 and 22².

4. **Amyotrophic Lateral Sclerosis (ALS)**: Some cases of ALS, a progressive neurodegenerative disease, have been linked to genetic changes on chromosome 9².

5. **Coronary Artery Disease**: Genetic variations on chromosome 9 have been associated with an increased risk of coronary artery disease².

¹: [MedlinePlus](https://medlineplus.gov/genetics/chromosome/9/)
²: [Wikipedia](https://en.wikipedia.org/wiki/Chromosome_9)

Source: Conversation with Copilot, 13/09/2024
(1) Chromosome 9 - MedlinePlus. https://medlineplus.gov/genetics/chromosome/9/.
(2) Chromosome 9 - Wikipedia. https://en.wikipedia.org/wiki/Chromosome_9.
(3) Genetic Disorders: What Are They, Types, Symptoms & Causes.

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Chromosome 10 is associated with several genetic disorders and conditions. Here are some notable ones:

1. **Monosomy 10p**: This rare chromosomal disorder involves the deletion of the short arm (p arm) of chromosome 10. It can lead to severe intellectual disability, growth delays, distinctive craniofacial malformations, and congenital heart defects¹.

2. **Distal Trisomy 10q**: This condition involves the duplication of the long arm (q arm) of chromosome 10. It can result in intellectual disability, slow growth, muscle tone abnormalities, and distinctive craniofacial features².

3. **Trisomy 10p**: This rare disorder involves the duplication of the short arm (p arm) of chromosome 10. It can cause cardiac, renal, ocular, and bone malformations, as well as severe intellectual and motor deficiencies³.

4. **Cancers**: Changes in the number and structure of chromosome 10 are associated with several types of cancer, including brain tumors called gliomas⁴.

¹: [NORD](https://rarediseases.org/rare-diseases/chromosome-10-monosomy-10p/)
²: [NORD](https://rarediseases.org/rare-diseases/chromosome-10-distal-trisomy-10q/)
³: [Orphanet](https://www.orpha.net/en/disease/detail/171929)
⁴: [MedlinePlus](https://medlineplus.gov/download/genetics/chromosome/10.pdf)

Source: Conversation with Copilot, 13/09/2024
(1) Chromosome 10, Monosomy 10p - Symptoms, Causes, Treatment | NORD. https://rarediseases.org/rare-diseases/chromosome-10-monosomy-10p/.
(2) Chromosome 10, Distal Trisomy 10q - Symptoms, Causes, Treatment - NORD. https://rarediseases.org/rare-diseases/chromosome-10-distal-trisomy-10q/.
(3) Orphanet: Trisomy 10p. https://www.orpha.net/en/disease/detail/171929.
(4) Chromosome 10 - MedlinePlus. https://medlineplus.gov/download/genetics/chromosome/10.pdf.
(5) Disorders of Chromosome 10 - DoveMed. https://www.dovemed.com/diseases-conditions/disorders-chromosome-10.

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Chromosome 11 is associated with several genetic disorders and conditions. Here are some notable ones:

1. **Beckwith-Wiedemann Syndrome**: This condition results from the abnormal regulation of genes on part of the short arm (p arm) of chromosome 11. It leads to overgrowth and an increased risk of developing certain types of tumors¹.

2. **Jacobsen Syndrome**: Also known as 11q terminal deletion disorder, this condition is caused by a loss of genetic material from the long arm (q arm) of chromosome 11. It can lead to developmental delays, intellectual disabilities, and distinctive facial features⁵⁶.

3. **WAGR Syndrome**: This rare genetic condition is caused by a deletion of a group of genes located on chromosome 11. It is characterized by Wilms tumor (a type of kidney cancer), Aniridia (absence of the iris), Genitourinary anomalies, and intellectual disability (mental Retardation)⁴.

4. **Partial Trisomy 11q**: This rare chromosomal disorder involves the duplication of the long arm (q arm) of chromosome 11. It can cause growth retardation, intellectual disabilities, and distinctive craniofacial abnormalities².

¹: [MedlinePlus](https://medlineplus.gov/genetics/chromosome/11/)
²: [NORD](https://rarediseases.org/rare-diseases/chromosome-11-partial-trisomy-11q/)
⁴: [Genome.gov](https://www.genome.gov/Genetic-Disorders/WAGR-Syndrome)
⁵: [MedlinePlus](https://medlineplus.gov/genetics/condition/jacobsen-syndrome/)
⁶: [Healthline](https://www.healthline.com/health/jacobsen-syndrome)

Source: Conversation with Copilot, 13/09/2024
(1) Chromosome 11 - MedlinePlus. https://medlineplus.gov/genetics/chromosome/11/.
(2) Jacobsen syndrome: MedlinePlus Genetics. https://medlineplus.gov/genetics/condition/jacobsen-syndrome/.
(3) Jacobsen Syndrome: Symptoms, Causes, and Treatments - Healthline. https://www.healthline.com/health/jacobsen-syndrome.
(4) About WAGR Syndrome - National Human Genome Research Institute. https://www.genome.gov/Genetic-Disorders/WAGR-Syndrome.
(5) Chromosome 11, Partial Trisomy 11q - Symptoms, Causes, Treatment - NORD. https://rarediseases.org/rare-diseases/chromosome-11-partial-trisomy-11q/.
(6) Genetic Disorders: What Are They, Types, Symptoms & Causes. https://bing.com/search?q=diseases+associated+with+chromosome+11.

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Chromosome 12 is associated with several genetic disorders and conditions. Here are some notable ones:

1. **Pallister-Killian Mosaic Syndrome**: This condition is caused by the presence of an abnormal extra chromosome called an isochromosome 12p. It can lead to developmental delays, intellectual disabilities, distinctive facial features, and other physical abnormalities¹.

2. **Chronic Eosinophilic Leukemia**: This type of blood cell cancer is associated with translocations involving chromosome 12. The most common translocation fuses part of the gene from chromosome 12, leading to the formation of the ETV6/PDGFRβ fusion gene¹³.

3. **Angiomatoid Fibrous Histiocytoma**: This rare tumor, primarily found in adolescents and young adults, is associated with abnormalities in chromosome 12¹.

4. **Clear Cell Sarcoma**: Another rare tumor linked to chromosome 12 abnormalities¹.

¹: [MedlinePlus](https://medlineplus.gov/genetics/chromosome/12/)
³: [Austra Health](https://www.austrahealth.com.au/chromosome-12.html)

Source: Conversation with Copilot, 13/09/2024
(1) Chromosome 12 - MedlinePlus. https://medlineplus.gov/genetics/chromosome/12/.
(2) Exploring Chromosome 12: Functions and Implications - Austra Health. https://www.austrahealth.com.au/chromosome-12.html.
(3) Chromosome 12 - Wikipedia. https://en.wikipedia.org/wiki/Chromosome_12.
(4) Chromosome 12 - MedlinePlus. https://medlineplus.gov/download/genetics/chromosome/12.pdf.

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CHROMOSOMES 13 to 22
Also Chromosome X & Y
------------------------------------------

Chromosome 13 is associated with several genetic disorders and conditions. Here are some notable ones:

1. **Patau's Syndrome (Trisomy 13)**: This serious genetic disorder is caused by having an additional copy of chromosome 13 in some or all of the body's cells. It leads to severe developmental issues, heart defects, brain abnormalities, and distinctive facial features¹.

2. **13q Deletion Syndrome**: This condition involves the deletion of a portion of the long arm (q arm) of chromosome 13. It can result in developmental delays, intellectual disabilities, and physical abnormalities³.

3. **Feingold Syndrome Type 2**: This syndrome is caused by deletions at position 13q31.3. It is characterized by abnormalities of the fingers and toes, small head size (microcephaly), and learning disabilities².

4. **Various Cancers**: Changes in chromosome 13 are associated with several types of cancer, including bladder cancer, breast cancer, and a rare blood cancer called 8p11 myeloproliferative syndrome²³.

¹: [NHS](https://www.nhs.uk/conditions/pataus-syndrome/)
²: [MedlinePlus](https://medlineplus.gov/genetics/chromosome/13/)
³: [Wikipedia](https://en.wikipedia.org/wiki/Chromosome_13)

Source: Conversation with Copilot, 13/09/2024
(1) Patau's syndrome - NHS. https://www.nhs.uk/conditions/pataus-syndrome/.
(2) Chromosome 13 - Wikipedia. https://en.wikipedia.org/wiki/Chromosome_13.
(3) Chromosome 13 - MedlinePlus. https://medlineplus.gov/genetics/chromosome/13/.
(4) Trisomy 13 - Pediatrics - MSD Manual Professional Edition. https://www.msdmanuals.com/en-gb/professional/pediatrics/chromosome-and-gene-abnormalities/trisomy-13.

-----------------------------------------

Chromosome 14 is associated with several genetic disorders and conditions. Here are some notable ones:

1. **Multiple Myeloma**: This type of blood cancer involves abnormal changes in the structure or number of chromosomes, including translocations involving chromosome 14³.

2. **Burkitt's Lymphoma**: This cancer of white blood cells is related to a translocation between chromosomes 8 and 14⁴.

3. **Alpha-1 Antitrypsin Deficiency**: This genetic disorder can lead to lung and liver disease and is associated with genes on chromosome 14⁴.

4. **Trisomy 14 Mosaic**: This rare chromosomal disorder involves having an extra copy of chromosome 14 in some cells of the body. It can lead to growth delays, developmental delays, and distinctive craniofacial features².

5. **Ring Chromosome 14 Syndrome**: This condition is caused by a chromosomal abnormality known as a ring chromosome 14. It can lead to developmental delays, intellectual disabilities, and seizures¹.

Source: Conversation with Copilot, 13/09/2024
(1) Chromosome 14: Structure, Genes, and Disorders - Austra Health. https://www.austrahealth.com.au/chromosome-14.html.
(2) Chromosome 14 - Wikipedia. https://en.wikipedia.org/wiki/Chromosome_14.
(3) Chromosome 14, Trisomy Mosaic - Symptoms, Causes, Treatment - NORD. https://rarediseases.org/rare-diseases/chromosome-14-trisomy-mosaic/.
(4) Chromosome 14 - MedlinePlus. https://medlineplus.gov/genetics/chromosome/14/.
(5) Chromosome 14 - MedlinePlus. https://medlineplus.gov/download/genetics/chromosome/14.pdf.

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Chromosome 15 is associated with several genetic disorders and conditions. Here are some notable ones:

1. **Prader-Willi Syndrome (PWS)**: This condition is caused by the loss of working copies of a collection of genes on the paternal copy of chromosome 15. It leads to weak muscles, developmental delays, intellectual disabilities, behavioral concerns, and a constant hunger that can lead to excessive weight gain¹².

2. **Angelman Syndrome (AS)**: This syndrome is caused by the missing expression of the UBE3A gene on the maternal copy of chromosome 15. It is characterized by developmental delays, speech impairments, movement and balance issues, seizures, and a distinctive happy demeanor²³.

3. **Dup15q Syndrome**: This condition involves an extra copy (duplication) of a segment on the maternal copy of chromosome 15. It can result in developmental delays, intellectual disabilities, epilepsy, and autism spectrum disorder (ASD)²³.

4. **Trisomy 15**: This rare chromosomal disorder involves having an extra copy of chromosome 15 in some or all of the body's cells. It can lead to growth delays, developmental delays, and distinctive craniofacial features⁵.

¹: [NHS](https://www.nhs.uk/conditions/prader-willi-syndrome/causes/)
²: [Sequence MD](https://sequencemd.com/understanding-chromosome15-disorders/)
³: [Murdoch Children's Research Institute](https://www.mcri.edu.au/impact/a-z-child-adolescent-health/c/chromosome-15-imprinting-disorders)
⁵: [Austra Health](https://www.austrahealth.com.au/chromosome-15.html)

Source: Conversation with Copilot, 13/09/2024
(1) Prader-Willi syndrome - Causes - NHS. https://www.nhs.uk/conditions/prader-willi-syndrome/causes/.
(2) Understanding Chromosome 15 Disorders: A High-Level Guide. https://sequencemd.com/understanding-chromosome15-disorders/.
(3) Chromosome 15 imprinting disorders - Murdoch Children's Research Institute. https://www.mcri.edu.au/impact/a-z-child-adolescent-health/c/chromosome-15-imprinting-disorders.
(4) Understanding Chromosome 15: Functions, disorders, and significant research. https://www.austrahealth.com.au/chromosome-15.html.
(5) Frontiers | Chromosome 15 Imprinting Disorders: Genetic Laboratory .... https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2020.00154/full.

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Chromosome 16 is associated with several genetic disorders and conditions. Here are some notable ones:

1. **Trisomy 16**: This condition involves having an extra copy of chromosome 16. It is the most common trisomy in humans and often leads to miscarriage¹.

2. **Trisomy 16 Mosaicism**: In this condition, some cells have three copies of chromosome 16 while others have the normal two copies. It can lead to poor fetal growth, congenital heart defects, unusual facial features, underdeveloped lungs, and musculoskeletal anomalies¹.

3. **16p13.3 Deletion Syndrome**: This disorder involves the deletion of part of the short arm (p arm) of chromosome 16. It has been reported in individuals with tuberous sclerosis, Rubinstein-Taybi syndrome, and alpha-thalassemia¹.

4. **16p11.2 Duplication Syndrome**: This condition involves the duplication of a segment of the short arm (p arm) of chromosome 16. It can cause poor fetal growth, developmental delays, and other physical abnormalities¹.

5. **Autism Spectrum Disorder (ASD)**: Changes in chromosome 16 have been linked to an increased risk of ASD².

6. **Polycystic Kidney Disease (PKD)**: This genetic disorder, which causes the growth of numerous cysts in the kidneys, is associated with mutations on chromosome 16².

¹: [Verywell Health](https://www.verywellhealth.com/chromosome-16-disorders-2860706)
²: [Wikipedia](https://en.wikipedia.org/wiki/Chromosome_16)

Source: Conversation with Copilot, 13/09/2024
(1) Chromosome 16 Disorders and Health - Verywell Health. https://www.verywellhealth.com/chromosome-16-disorders-2860706.
(2) Chromosome 16 - Wikipedia. https://en.wikipedia.org/wiki/Chromosome_16.
(3) Understanding Chromosome 16: Genetics, Functions, and Health Conditions. https://www.austrahealth.com.au/chromosome-16.html.
(4) Frequently Asked Questions About Chromosome 16 Disorders - Trisomy 16. http://www.trisomy16.org/faq_and_glossary/faq_doc16.html.

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Chromosome 17 is associated with several genetic disorders and conditions. Here are some notable ones:

1. **Charcot-Marie-Tooth Disease**: This condition is characterized by muscle weakness and sensory changes. It is linked to mutations or deletions in genes on chromosome 17³.

2. **Potocki-Lupski Syndrome**: This condition results from having an extra copy of a small piece of chromosome 17 in each cell. It can lead to developmental delays, intellectual disabilities, and distinctive facial features⁴.

3. **Smith-Magenis Syndrome**: This syndrome is caused by the deletion of a small piece of chromosome 17. It can result in developmental delays, intellectual disabilities, sleep disturbances, and behavioral problems⁴.

4. **17q12 Deletion Syndrome**: This condition involves the deletion of a small piece of the long arm (q arm) of chromosome 17. It can lead to abnormalities of the kidneys and urinary system, a form of diabetes called MODY5, delayed development, intellectual disability, and behavioral or psychiatric disorders¹.

5. **17q12 Duplication Syndrome**: This condition involves the duplication of a small piece of the long arm (q arm) of chromosome 17. It can cause a wide range of symptoms, including developmental delays, intellectual disabilities, and behavioral issues¹.

Source: Conversation with Copilot, 13/09/2024
(1) Chromosome 17: Structure, Functions, and Genetic Disorders - Austra Health. https://www.austrahealth.com.au/chromosome-17.html.
(2) Unveiling disease-causing genetic changes in chromosome 17. https://www.bcm.edu/news/disease-causing-genetic-changes-chromosome-17.
(3) Chromosome 17 - MedlinePlus. https://medlineplus.gov/genetics/chromosome/17/.
(4) Disorders of Chromosome 17 - DoveMed. https://www.dovemed.com/diseases-conditions/disorders-chromosome-17.
(5) Unveiling disease-causing genetic changes in chromosome 17. https://www.sciencedaily.com/releases/2019/02/190228141344.htm.

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Chromosome 18 is associated with several genetic disorders and conditions. Here are some notable ones:

1. **Edwards' Syndrome (Trisomy 18)**: This serious genetic disorder is caused by having an extra copy of chromosome 18. It leads to severe developmental issues, heart defects, brain abnormalities, and distinctive facial features¹².

2. **Erythropoietic Protoporphyria**: This condition affects the production of heme, a component of hemoglobin. It can cause sensitivity to sunlight, leading to painful skin reactions⁴.

3. **Hereditary Hemorrhagic Telangiectasia**: This disorder affects blood vessels and can cause frequent nosebleeds, skin discolorations, and arteriovenous malformations⁴.

4. **Niemann-Pick Disease Type C**: This is a rare, inherited disease that affects the body's ability to metabolize cholesterol and other lipids. It can lead to severe neurological symptoms⁴.

5. **Porphyria**: This group of disorders results from a buildup of natural chemicals that produce porphyrin in the body. It can affect the skin or nervous system⁴.

¹: [NHS](https://www.nhs.uk/conditions/edwards-syndrome/)
²: [NHS Inform](https://www.nhsinform.scot/illnesses-and-conditions/chromosomal-conditions/edwards-syndrome/)
⁴: [Wikipedia](https://en.wikipedia.org/wiki/Chromosome_18)

Source: Conversation with Copilot, 13/09/2024
(1) Edwards' syndrome (trisomy 18) - NHS. https://www.nhs.uk/conditions/edwards-syndrome/.
(2) Edwards' syndrome - NHS inform. https://www.nhsinform.scot/illnesses-and-conditions/chromosomal-conditions/edwards-syndrome/.
(3) Chromosome 18 - Wikipedia. https://en.wikipedia.org/wiki/Chromosome_18.
(4) Trisomy 18 - Trisomy 18 - Merck Manual Professional Edition. https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-abnormalities/trisomy-18.

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Chromosome 19 is associated with several genetic disorders and conditions. Here are some notable ones:

1. **19p13.13 Deletion Syndrome**: This condition involves the deletion of a small piece of the short arm (p arm) of chromosome 19. It can lead to an unusually large head size (macrocephaly), tall stature, delayed development of speech and motor skills, intellectual disability, seizures, feeding and digestive difficulties, and eye abnormalities¹.

2. **Acute Lymphoblastic Leukemia (ALL)**: Rearrangements of genetic material between chromosome 19 and other chromosomes are particularly common in this type of blood cancer³.

3. **Ring Chromosome 19 Syndrome**: This rare disorder involves the formation of a ring chromosome due to the loss of genetic material from both ends of chromosome 19. It can lead to mild hypotonia, autistic-like mannerisms, cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus⁴.

Source: Conversation with Copilot, 13/09/2024
(1) Chromosome 19 - MedlinePlus. https://medlineplus.gov/genetics/chromosome/19/.
(2) Chromosome 19 - MedlinePlus. https://medlineplus.gov/download/genetics/chromosome/19.pdf.
(3) Orphanet: Ring chromosome 19 syndrome. https://www.orpha.net/en/disease/detail/1443.
(4) Chromosome 19 - Wikipedia. https://en.wikipedia.org/wiki/Chromosome_19.
(5) Overview of Chromosome and Gene Disorders - Overview of Chromosome and .... https://www.merckmanuals.com/home/children-s-health-issues/chromosome-and-gene-abnormalities/overview-of-chromosome-and-gene-disorders.

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Chromosome 20 is associated with several genetic disorders and conditions. Here are some notable ones:

1. **Alagille Syndrome**: This genetic disorder affects the liver, heart, and other parts of the body. It is associated with deletions of genetic material on chromosome 20, specifically in the region known as 20p12¹³.

2. **Ring Chromosome 20 Syndrome**: This condition is caused by a chromosomal abnormality known as a ring chromosome 20. It can lead to epilepsy and other health problems¹³.

3. **Trisomy 20**: This condition involves having three copies of chromosome 20 instead of the usual two. It can lead to various developmental and physical abnormalities³.

4. **Albright's Hereditary Osteodystrophy**: This genetic disorder affects the bones and other tissues. It is related to genes on chromosome 20².

5. **Adenosine Deaminase Deficiency**: This condition affects the immune system and is associated with genes on chromosome 20².

¹: [MedlinePlus](https://medlineplus.gov/genetics/chromosome/20/)
²: [Wikipedia](https://en.wikipedia.org/wiki/Chromosome_20)
³: [Austra Health](https://www.austrahealth.com.au/chromosome-20.html)

Source: Conversation with Copilot, 13/09/2024
(1) Chromosome 20 - MedlinePlus. https://medlineplus.gov/genetics/chromosome/20/.
(2) Chromosome 20: Structure, Function, and Genetic Disorders - Austra Health. https://www.austrahealth.com.au/chromosome-20.html.
(3) Chromosome 20 - Wikipedia. https://en.wikipedia.org/wiki/Chromosome_20.

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Chromosome 21 is most famously associated with **Down syndrome (Trisomy 21)**. This genetic disorder is caused by the presence of an extra copy of chromosome 21 and leads to developmental delays, intellectual disabilities, and characteristic physical features¹².

People with Down syndrome also have an increased risk of several health issues, including:
- **Congenital heart defects**
- **Thyroid diseases** (such as hypothyroidism)
- **Diabetes**
- **Leukemia**
- **Epilepsy**
- **Gastrointestinal anomalies** (such as duodenal atresia and Hirschsprung disease)
- **Celiac disease**
- **Obstructive sleep apnea**³⁴

Source: Conversation with Copilot, 13/09/2024
(1) Down syndrome - Symptoms and causes - Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977.
(2) Down syndrome - Wikipedia. https://en.wikipedia.org/wiki/Down_syndrome.
(3) Down Syndrome (Trisomy 21) - Down Syndrome (Trisomy 21) - The Merck Manuals. https://www.merckmanuals.com/home/children-s-health-issues/chromosome-and-gene-abnormalities/down-syndrome-trisomy-21.
(4) Down Syndrome (Trisomy 21) - Down Syndrome (Trisomy 21) - MSD Manuals. https://www.msdmanuals.com/en-sg/professional/pediatrics/chromosome-and-gene-abnormalities/down-syndrome-trisomy-21.

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Chromosome 22 is associated with several genetic disorders and conditions. Here are some notable ones:

1. **DiGeorge Syndrome (22q11.2 Deletion Syndrome)**: This condition is caused by the deletion of a small part of chromosome 22. It can lead to heart defects, immune system problems, cleft palate, and developmental delays¹².

2. **Cat Eye Syndrome**: This rare condition is caused by a duplication of a small piece of chromosome 22. It can result in eye abnormalities, heart defects, and kidney problems³.

3. **Chronic Myeloid Leukemia (CML)**: This type of cancer is associated with a specific chromosomal abnormality known as the Philadelphia chromosome, which involves a translocation between chromosomes 9 and 22³.

4. **Amyotrophic Lateral Sclerosis (ALS)**: Some cases of ALS, a progressive neurodegenerative disease, have been linked to genetic changes on chromosome 22³.

5. **Breast Cancer**: Certain genetic mutations on chromosome 22 have been associated with an increased risk of breast cancer³.

¹: [NHS](https://www.nhs.uk/conditions/digeorge-syndrome/)
²: [Mayo Clinic](https://www.mayoclinic.org/diseases-conditions/digeorge-syndrome/symptoms-causes/syc-20353543)
³: [Wikipedia](https://en.wikipedia.org/wiki/Chromosome_22)

Source: Conversation with Copilot, 13/09/2024
(1) DiGeorge syndrome (22q11 deletion) - NHS. https://www.nhs.uk/conditions/digeorge-syndrome/.
(2) DiGeorge syndrome (22q11.2 deletion syndrome) - Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/digeorge-syndrome/symptoms-causes/syc-20353543.
(3) Chromosome 22 - Wikipedia. https://en.wikipedia.org/wiki/Chromosome_22.

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Chromosome X is associated with several genetic disorders and conditions. Here are some notable ones:

1. **Klinefelter Syndrome**: This condition occurs in males who have one or more extra copies of the X chromosome (XXY). It can lead to abnormal sexual development, reduced testosterone levels, learning difficulties, and infertility¹.

2. **Turner Syndrome**: This condition affects females and arises from a missing or abnormally structured X chromosome. It can lead to short stature, infertility, and various physical abnormalities².

3. **Triple X Syndrome (Trisomy X)**: This condition is caused by the presence of an extra copy of the X chromosome in females. It can lead to delayed language, motor-coordination, and cognitive processing skills².

4. **Hemophilia A and B**: These are bleeding disorders caused by mutations in genes on the X chromosome. They lead to a deficiency in blood clotting³.

5. **Duchenne Muscular Dystrophy**: This condition causes progressive muscle weakness and immobility. It is caused by mutations in the dystrophin gene on the X chromosome³.

6. **Red-Green Color Blindness**: This condition affects an individual's ability to see red or green colors and is caused by mutations in genes on the X chromosome³.

7. **Adrenoleukodystrophy**: This condition leads to progressive brain damage, failure of the adrenal glands, and eventually death. It is caused by mutations in the ABCD1 gene on the X chromosome⁴.

¹: [NHS](https://www.nhs.uk/conditions/klinefelters-syndrome/)
²: [News-Medical.net](https://www.news-medical.net/health/Diseases-Linked-to-X-Chromosome.aspx)
³: [Wikipedia](https://en.wikipedia.org/wiki/X-linked_genetic_disease)
⁴: [Wikipedia](https://en.wikipedia.org/wiki/X-linked_recessive_inheritance)

Source: Conversation with Copilot, 13/09/2024
(1) Klinefelter syndrome - NHS. https://www.nhs.uk/conditions/klinefelters-syndrome/.
(2) Diseases Linked to X Chromosome - News-Medical.net. https://www.news-medical.net/health/Diseases-Linked-to-X-Chromosome.aspx.
(3) X-linked genetic disease - Wikipedia. https://en.wikipedia.org/wiki/X-linked_genetic_disease.
(4) X-linked recessive inheritance - Wikipedia. https://en.wikipedia.org/wiki/X-linked_recessive_inheritance.
(5) undefined. http://www.broadinstitute.org/~sfs/nrg_Xchrom.pdf.
(6) undefined. https://www.nature.com/.
(7) undefined. https://www.ncbi.nlm.nih.gov/.

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Chromosome Y is associated with several genetic disorders and conditions, particularly those that affect males. Here are some notable ones:

1. **Male Infertility**: The Y chromosome contains genes crucial for sperm production. Deletions in certain regions, such as the AZF (Azoospermia Factor) regions, can lead to male infertility¹.

2. **Turner Syndrome**: This condition affects females who have only one X chromosome and no Y chromosome. However, some individuals with Turner syndrome have cells with a Y chromosome, which can increase the risk of developing gonadoblastoma, a type of tumor².

3. **Swyer Syndrome**: This condition is characterized by the presence of an XY chromosome pattern in individuals who develop as females. It can lead to underdeveloped gonads and a lack of secondary sexual characteristics².

4. **Y Chromosome Microdeletion**: This condition involves the loss of small segments of the Y chromosome and can lead to various health issues, including infertility¹.

5. **Cancer**: Loss of the Y chromosome in blood cells has been linked to an increased risk of several types of cancer, including prostate cancer and leukemia¹⁴.

6. **Cardiovascular Diseases**: Studies have shown that the loss of the Y chromosome in blood cells is associated with an increased risk of cardiovascular diseases¹.

¹: [Cell & Bioscience](https://cellandbioscience.biomedcentral.com/articles/10.1186/s13578-020-00452-w)
²: [Oxford Academic](https://academic.oup.com/hmg/article/30/R2/R296/6330028)
⁴: [AACR Journals](https://aacrjournals.org/mcr/article/22/7/603/746054/Y-Chromosome-Loss-and-Implications-for-OncologyThe)

Source: Conversation with Copilot, 13/09/2024
(1) Y chromosome in health and diseases - Cell & Bioscience. https://cellandbioscience.biomedcentral.com/articles/10.1186/s13578-020-00452-w.
(2) The Y chromosome and its impact on health and disease - Oxford Academic. https://academic.oup.com/hmg/article/30/R2/R296/6330028.
(3) Y Chromosome Loss and Implications for Oncology. https://aacrjournals.org/mcr/article/22/7/603/746054/Y-Chromosome-Loss-and-Implications-for-OncologyThe.
(4) Genetic Disorders: What Are They, Types, Symptoms & Causes. https://bing.com/search?q=diseases+associated+with+chromosome+Y.
(5) undefined. https://doi.org/10.1093/hmg/ddab215.

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