Diseases

Chromosome 7- monosomy 7q3

A very rare chromosomal disorder involving a deletion of material from chromosome 7 at a location known as q3 which results in a wide range of abnormalities.

Chromosome 7- partial monosomy 7p

Chromosome 7, Partial Monosomy 7p is a rare chromosomal disorder characterized by deletion (monosomy) of a portion of the short arm (p) of chromosome 7 (7p).

Chromosome 7- trisomy 7p

A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.

Chromosome 7- trisomy 7p13 p12 2

A rare chromosomal disorder where duplication of a portion of chromosome 7 causes various abnormalities such as short stature and mental retardation.

Chromosome 7- trisomy 7q

A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.

Chromosome 7- trisomy mosaic

A very rare chromosomal disorder where there is an extra copy of chromosome 7 in some of the body's cells. Most cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.

Chromosome 8 deletion

Chromosome 8 deletion is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Chromosome 8 deletion, or a subtype of Chromosome 8 deletion, affects less than 200,000 people in the US population. Source - National Institutes of Health (NIH)

Chromosome 8 ring

A rare chromosomal disorder involving chromosome 8 which causes various abnormalities such as mental retardation, ureter anomalies, finger defects and facial dysmorphism.

Chromosome 8- monosomy 8p

A rare chromosomal disorder involving deletion of the short arm (p) of chromosome 8 resulting in various abnormalities.

Chromosome 8- monosomy 8p2

Chromosome 8, Monosomy 8p2 is a rare chromosomal disorder characterized by deletion (monosomy) of a portion of the eighth chromosome.

Chromosome 8- monosomy 8p23 1

A rare chromosomal disorder involving the deletion of a portion of the short arm of chromosome 8. The symptoms are determined by the size and exact location of the deleted portion.

Chromosome 8- monosomy 8q

A rare chromosomal disorder where a part of the long arm (q) of chromosome 8 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.

Chromosome 8- mosaic trisomy

A very rare chromosomal disorder where there is an extra copy of chromosome 8 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.

Chromosome 8- partial trisomy

Chromosome 8, partial trisomy is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Chromosome 8, partial trisomy, or a subtype of Chromosome 8, partial trisomy, affects less than 200,000 people in the US population. Source - National Institutes of Health (NIH)

Chromosome 8- trisomy

A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities.

Chromosome 8- trisomy 8p

A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.

Chromosome 8- trisomy 8q

A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.

Chromosome 9 inversion or duplication

Trisomy 9 translocation is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Trisomy 9 translocation, or a subtype of Trisomy 9 translocation, affects less than 200,000 people in the US population. Source - National Institutes of Health (NIH)

Chromosome 9 Ring

A rare chromosomal abnormality where genetic material from the two ends is missing and the two ends rejoin to form a ring. The symptoms are determined by the size and exact location of the deleted portion.

Chromosome 9- duplication 9q21

Chromosome 9, duplication 9q21 is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Chromosome 9, duplication 9q21, or a subtype of Chromosome 9, duplication 9q21, affects less than 200,000 people in the US population. Source - National Institutes of Health (NIH)

Chromosome 9- monosomy 9p

A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is missing resulting in various abnormalities.

Chromosome 9- partial monosomy 9p

Chromosome 9, Partial Monosomy 9p is a rare chromosomal disorder in which there is deletion (monosomy) of a portion of the 9th chromosome.

Chromosome 9- partial trisomy 9p

Chromosome 9, partial trisomy 9p is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Chromosome 9, partial trisomy 9p, or a subtype of Chromosome 9, partial trisomy 9p, affects less than 200,000 people in the US population. Source - National Institutes of Health (NIH)

Chromosome 9- tetrasomy 9p

Chromosome 9, Tetrasomy 9p is a very rare chromosomal disorder in which the short arm of the ninth chromosome (9p) appears four times (tetrasomy) rather than twice in all or some cells of the body. Individuals with a normal chromosomal make-up (karyotype) have two 9th chromosomes, both of which have a short arm ("9p") and a long arm ("9q"). However, in individuals with Chromosome 9, Tetrasomy 9p, four short arms (9ps) are present in cells rather than the normal two.

Chromosome 9- trisomy 9q

A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 9 resulting in various abnormalities.

Chromosome 9- trisomy 9q32

A rare chromosomal disorder where duplication of a portion of chromosome 9 causes various abnormalities such as short stature and mental retardation and facial anomalies.

Chromosome 9- trisomy mosaic

Chromosome 9, Trisomy Mosaic, also known as Trisomy 9 Mosaicism syndrome, is a rare chromosomal disorder in which the entire 9th chromosome appears three times (trisomy) rather than twice in some cells of the body. The term "mosaic" indicates that some cells contain the extra chromosome 9, while others have the normal chromosomal pair.

Chronic Active Epstein Barr Virus Infection

Epstein-Barr virus, chronic: A form of human herpes virus that produces persistent symptoms. Most people become infected with the virus at some stage in their life though they usually have few if any symptoms. However, some people develop severe symptoms as a result of an EBV infection.