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Full trisomy 9 is a rare and fatal chromosomal disorder caused by having three copies of chromosome number 9.It can be a viable condition if the trisomic component affects only part of the cells of the body or in cases of partial trisomy of the short arm (trisomy 9p) in which cells have a normal set of two entire chromosomes 9 plus part of a third copy of the short arm ("p") of the chromosome.
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 .
PKS is caused by an sSMC that consists of two copies or, less commonly, four copies of the genetic material in the p arm of chromosome 12. [1] [3] Recent studies in two individuals with PKS found their sSMCs consisted specifically of genetic material located in a stretch of chromosome 12 's p arm starting at its band 11 and running to its end.
Mutations in the MECP2 gene are also commonly associated with Rett syndrome in females. Advances in genetic testing and more widespread use of Array Comparative Genomic Hybridization has led to increased diagnosis of MECP2 duplication syndrome. [6] It is thought to represent ~1% of X-linked male mental disability cases. [7]
7q11.23 duplication syndrome (also called dup7 or 7dup or duplication of the Williams-Beuren syndrome critical region) is a rare genetic syndrome caused by micro-duplication of 1.5-1.8 mega base in section q11.23 of chromosome 7. This syndrome is characterized by a wide spectrum of neurological, behavior and other medical problems which may ...
Dup15q syndrome is the common name for maternally inherited chromosome 15q11.2-q13.1 duplication syndrome. This is a genomic copy number variant that leads to a type of neurodevelopmental disorder , caused by partial duplication of the proximal long arm of Chromosome 15 .
1q21.1 duplication syndrome arises from microduplications of the BP3-BP4 region, containing at least seven genes and a minimum duplicated region of ~1.2 Mb of unique DNA sequence. [7] 1q21.1 duplication syndrome has an autosomal dominant inheritance pattern, where 18–50% of deletions happen de novo and 50–82% are inherited from their ...
A genetic region on the short (p) arm of chromosome 16 at a place known as p11.2 is duplicated in individuals with a 16p11.2 duplication. It is sufficient for a duplication in one copy of chromosome 16 in each cell to generate the disease since 16p11.2 duplications follow an autosomal dominant inheritance pattern. [3]