Disease – Page 42 – CheckOrphan

Chromosome 3- Trisomy 3q2

Chromosome 3, Trisomy 3q2: A rare chromosomal disorder involving the duplication of a portion of the long arm of chromosome 3. The symptoms are determined by the size and exact location of the duplicated portion.

Chromosome 4 ring syndrome

Chromosome 4 ring syndrome: A rare chromosomal disorder where the ends of chromosome 4 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size and location of the genetic deletion.

Chromosome 4 short arm deletion

Chromosome 4p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.

Chromosome 4- monosomy 4p14 p16

Chromosome 4, monosomy 4p14 p16: A rare chromosomal disorder characterized by various abnormalities including muscle problems, tall stature, mental retardation and hand and facial anomalies.

Chromosome 4- monosomy 4q

Chromosome 4, Monosomy 4q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 4 is missing resulting in various abnormalities.

Chromosome 4- monosomy 4q32

Synonyms of Chromosome 4, Partial Trisomy Distal 4q * Chromosome 4, Partial Trisomy 4q (4q21-qter to 4q32-qter, included) * Chromosome 4, Partial Trisomy 4q (4q2 and 4q3, included) * Distal 4q Trisomy * Dup(4q) Syndrome, Partial * Duplication 4q Syndrome, Partial * Partial Trisomy 4q Sayndrome Chromosome 4, Partial Trisomy Distal 4q is a rare chromosomal disorder in which a portion of the fourth chromosome appears three times (trisomy) rather than twice in cells of the body.

Chromosome 4- monosomy distal 4q

* Chromosome 4, Monosomy Distal 4q: A rare chromosomal disorder involving a deletion of the end portion of the long arm of chromosome 4. The symptoms are determined by the size and exact location of the deleted portion. Chromosome 4, Monosomy Distal 4q is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Chromosome 4, Monosomy Distal 4q, or a subtype of Chromosome 4, Monosomy Distal 4q, affects less than 200,000 people in the US population.

Chromosome 4- partial trisomy distal 4q

Chromosome 4- Trisomy 4p

Chromosome 4, trisomy 4p: A rare chromosomal disorder where a portion of chromosome four is duplicated so there is three copies of it instead of the normal two.

Chromosome 4- trisomy 4q

Chromosome 4, partial trisomy distal 4q: A rare chromosomal disorder involving the duplication of the end portion of the long arm of chromosome 4. The symptoms are determined by the size and exact location of the duplicated portion.

Chromosome 4- trisomy 4q21

Chromosome 4- trisomy 4q25 qter

Chromosome 4, trisomy 4q25 qter: A rare chromosomal disorder involving the duplication of a portion of the long arm of chromosome 4.

Chromosome 5- monosomy 5q35

Chromosome 5, monosomy 5q35: A very rare chromosomal disorder whose symptoms are variable but often include facial anomalies, skull malformations, developmental delay and heart defects.

Chromosome 5- trisomy 5p

Chromosome 5p duplication syndrome: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.

Chromosome 5- trisomy 5pter p13 3

Chromosome 5, trisomy 5pter p13 3: A rare chromosomal disorder characterized by cortico-adrenal hypoplasia, mental retardation, seizures and a blood abnormality.

Chromosome 5- trisomy 5q

Chromosome 6- monosomy 6q2

Chromosome 6, monosomy 6q2 is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Chromosome 6, monosomy 6q2, or a subtype of Chromosome 6, monosomy 6q2, affects less than 200,000 people in the US population. Source - National Institutes of Health (NIH)

Chromosome 6- partial trisomy 6q

Chromosome 6, Partial Trisomy 6q is an extremely rare chromosomal disorder in which a portion of the 6th chromosome (6q) is present three times (trisomy) rather than twice in cells of the body

Chromosome 6- trisomy 6p

Chromosome 6, trisomy 6p is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Chromosome 6, trisomy 6p, or a subtype of Chromosome 6, trisomy 6p, affects less than 200,000 people in the US population. Source - National Institutes of Health (NIH)

Chromosome 6- trisomy 6q

A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.

Chromosome 7 ring syndrome

A rare chromosomal disorder where the ends of chromosome 7 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size of the genetic deletion.

Chromosome 7- monosomy

Chromosome 7- monosomy 7q2

Chromosome 7- monosomy 7q21

A rare chromosomal disorder characterized by mental retardation, short stature, facial anomalies and muscle and distal limb abnormalities.

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.