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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 .
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 ...
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 .
Chromosome 15q duplication is an extremely rare genetic disorder in which there is an excess copy of a segment of DNA found on the long ("q") arm of human chromosome 15.As a result, affected cells contain a total of 3 copies of the duplicated bases, instead of the usual 2 copies - one inherited from the mother and one from the father - found in a normal human diploid genome.
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 ...
Distal 18q-is a genetic condition caused by a deletion of genetic material within one of the two copies of chromosome 18. [1] The deletion involves the distal section of 18q and typically extends to the tip of the long arm of chromosome 18. [2]
Isodicentric 15, also called marker chromosome 15 syndrome, [2] idic(15), partial tetrasomy 15q, or inverted duplication 15 (inv dup 15), is a chromosome abnormality in which a child is born with extra genetic material from chromosome 15. People with idic(15) are typically born with 47 chromosomes in their body cells, instead of the normal 46.
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]