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8p23.1 duplication syndrome is a rare genetic disorder caused by a duplication of a region from human chromosome 8. [1] This duplication syndrome has an estimated prevalence of 1 in 64,000 births [1] and is the reciprocal of the 8p23.1 deletion syndrome. The 8p23.1 duplication is associated with a variable phenotype including one or more of ...
Chromosomal deletion syndrome. Chromosomal deletion syndromes result from deletion of parts of chromosomes. Depending on the location, size, and whom the deletion is inherited from, there are a few known different variations of chromosome deletions. Chromosomal deletion syndromes typically involve larger deletions that are visible using ...
Trisomy 8 mosaicism affects wide areas of chromosome 8, containing many genes, and can thus be associated with a range of symptoms. Mosaic trisomy 8 has been reported in rare cases of Rothmund–Thomson syndrome, a genetic disorder associated with the DNA helicase RECQL4 on chromosome 8q24.3. The syndrome is "characterized by skin atrophy ...
NC_000008 (FASTA) GenBank. CM000670 (FASTA) Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 spans about 146 million base pairs (the building material of DNA) and represents between 4.5 and 5.0% of the total DNA in cells. [5] About 8% of its genes are involved in ...
Causes. 3p deletion syndrome is brought on by the loss of chromosome 3 's small (p) arm's end. The majority of 3p deletion syndrome instances are not hereditary. One chromosome is deleted, usually randomly, either in the early stages of fetal development or during the production of reproductive cells, such as eggs or sperm.
13q deletion syndrome. 13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13. Depending upon the size and location of the deletion on chromosome 13, the physical and mental manifestations will vary. It has the potential to cause intellectual disability and congenital ...
Chromosome or gene Type Reference Prevalence 1p36 deletion syndrome: 1 D 1:7,500 1q21.1 deletion syndrome: 1q21.1 D 2q37 deletion syndrome: 2q37 D 5q deletion syndrome: 5q D 5,10-methenyltetrahydrofolate synthetase deficiency: MTHFS [2] 7p22.1 microduplication syndrome: 7p22.1 17q12 microdeletion syndrome: 17q12 [3] [4] 1:14,000-62,500
Smith–Magenis syndrome. Smith–Magenis syndrome (SMS), also known as 17p- syndrome, is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17. [1] It has features including intellectual disability, facial abnormalities, difficulty sleeping, and numerous behavioral problems such as self-harm.