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DNA Deletion and Duplication and the Associated Genetic
https://www.nature.com/scitable/topicpage/dna-deletion-and-duplication-and-the-associated-331/
WEBDeletions and duplications of single-base pairs typically arise during homologous recombination and cause diseases. But what happens when a mutation occurs over multiple genes?
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Disorders caused by chromosome abnormalities - PMC
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681172/
WEBDec 10, 2010 · A duplication is caused by the gain of a copy of a chromosomal segment at the original location on the chromosome. Duplications may be in an inverted orientation or in the original (direct) orientation. Other structural chromosome abnormalities do not result in gain or loss of any genetic material.
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MECP2 Duplication Syndrome - Symptoms, Causes, Treatment
https://rarediseases.org/rare-diseases/mecp2-duplication-syndrome/
WEBMar 22, 2017 · MECP2 duplication syndrome is caused by a genetic abnormality in which a portion of the X chromosome appears two times on one of the X chromosomes (duplication) instead of once. By definition, the affected region always contains the methyl-CpG-binding protein 2 ( MECP2) gene.
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Genetic Disorders: What Are They, Types, Symptoms & Causes
https://my.clevelandclinic.org/health/diseases/21751-genetic-disorders
WEBDown syndrome (Trisomy 21). FragileX syndrome. Klinefelter syndrome. Triple-X syndrome. Turner syndrome. Trisomy 18. Trisomy 13. Multifactorial disorders. Late-onset Alzheimer’s disease. Arthritis. Autism spectrum disorder, in most cases. Cancer, in most cases.
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Duplication - National Human Genome Research Institute
https://www.genome.gov/genetics-glossary/Duplication
WEB5 days ago · Duplication, as related to genomics, refers to a type of mutation in which one or more copies of a DNA segment (which can be as small as a few bases or as large as a major chromosomal region) is produced. Duplications occur in all organisms. For example, they are especially prominent in plants, although they can also cause genetic diseases in ...
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7q11.23 duplication syndrome: MedlinePlus Genetics
https://medlineplus.gov/genetics/condition/7q1123-duplication-syndrome/
WEB7q11.23 duplication syndrome is a condition that can cause a variety of neurological and behavioral problems as well as other abnormalities. Explore symptoms, inheritance, genetics of this condition.
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22q11.2 Deletion and Duplication Syndromes - Children's …
https://www.chop.edu/conditions-diseases/22q112-deletion-and-duplication-syndromes
WEBThe 22q11.2 deletion is the underlying cause of the medical problems associated with DiGeorge syndrome, velocardiofacial syndrome and conotruncal anomaly face syndrome, as well as some of the problems associated with Opitz G/BBB and Cayler cardiofacial syndromes.
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Potocki-Lupski syndrome: MedlinePlus Genetics
https://medlineplus.gov/genetics/condition/potocki-lupski-syndrome/
WEBPotocki-Lupski syndrome is a condition that results from having an extra copy ( duplication) of a small piece of chromosome 17 in each cell. The duplication occurs on the short (p) arm of the chromosome at a position designated p11.2. This condition is also known as 17p11.2 duplication syndrome.
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MECP2 duplication syndrome: MedlinePlus Genetics
https://medlineplus.gov/genetics/condition/mecp2-duplication-syndrome/
WEBCauses. Inheritance. Other Names for This Condition. Additional Information & Resources. References. MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Explore symptoms, inheritance, genetics of this condition.
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Epigenetics and Human Disease - PMC - National Center for …
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743078/
WEBDiseases may be caused by disruptions to imprinted genes or their epigenetic marks (e.g., in Angelman syndrome) or by mutations in genes that encode epigenetic modifiers (e.g., MECP2 mutations in Rett syndrome).
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