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Isodicentric 15
Isodicentric 15, also called 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. The extra chromosome is made up of a piece of chromosome 15 that has been duplicated end-to-end like a mirror image. It is the presence of this extra genetic material that is thought to account for the symptoms seen in some people with idic(15). Individuals with idic(15) have a total of four copies of this chromosome 15 region instead of the usual two copies (1 copy each on the maternal and paternal chromosomes).
The extra chromosome is rarely found in mosaic state, i.e. some of the cells carry the marker chromosome. However, mostly because of the marker's instability and tendency to be lost during cell division (mitosis), some cells are completely normal with 46 chromosomes. Occasionally, cells may have more than one idic(15), resulting in 48 or 49 chromosomes in all or some of their cells. A similar clinical picture albeit to a milder degree could be expected in individuals that have the extra chromosome 15 material as an interstitial duplication; not as a marker chromosome; thus having 46 chromosomes.〔(IDEAS - Isodicentric 15 | Welcome to IDEAS: IsoDicentric 15 Exchange Advocacy and Support | Support and Advocacy for duplication 15q syndrome: IDIC15, IDIC(15), Interstitial d... )〕
== Signs and symptoms ==
Individuals with idic(15) have delays in language development and motor skills such as walking or sitting up. Other traits may include low muscle tone (hypotonia), seizures, short stature, and intellectual disability. Distinctive facial features associated with idic(15) may include epicanthal folds (skin folds at the inner corners of the eyes), a flattened nasal bridge, button nose, and a high arched palate (roof of the mouth). Some individuals with idic(15) also have features of autism, such as problems with communication, social interactions, and repetitive and stereotyped behaviors (e.g., lining up toys, playing with a toy in the same manner over and over again, hand flapping, rocking back and forth). These are some mild features but with a severe person there may be more such as inability to talk at all.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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