Diseases

Chromosome 2- trisomy 2pter p24

Chromosome 2, trisomy 2pter p24: A rare chromosomal anomaly resulting in severe developmental problems with the brain as well as ureter and kidney anomalies.

Chromosome 2- trisomy 2q

Chromosome 2 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 2 instead of the normal two.

Chromosome 2- trisomy 2q37

Chromosome 2, monosomy 2q37: A very rare chromosomal disorder where a part of the long arm of chromosome 2 is missing which results in various birth defects and abnormalities. The features of the disorder are determined by the exact size and location of the deletion.

Chromosome 20 ring

Chromosome 20 ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 20 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.

Chromosome 20- duplication 20p

Chromosome 20p, partial duplication: A rare chromosomal disorder where a copy of the short arm of chromosome 20 has been triplicated instead of duplicated resulting in various anomalies.

Chromosome 20- trisomy

Chromosome 20, trisomy: A rare chromosomal disorder where there are three copies of chromosome 20 rather than the normal two which results in severe abnormalities and death.

Chromosome 21 monosomy

Chromosome 21 monosomy: A rare chromosomal disorder where there is only one copy of chromosome 21 instead of the normal two leading to various abnormalities.

Chromosome 21 ring

Chromosome 21 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 21 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.

Chromosome 21- monosomy 21q22

Chromosome 21, monosomy 21q22: A rare chromosomal disorder where a portion of the long arm of chromosome 21 is deleted.

Chromosome 21- tetrasomy 21q

Chromosome 21, tetrasomy 21q: A rare chromosomal disorder where there is four copies of the long arm of chromosome 21 instead of the normal two which results in various physical and mental anomalies.

Chromosome 22 ring

Chromosome 22 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 22 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.

Chromosome 22 trisomy mosaic

Chromosome 22 trisomy mosaic: A rare chromosomal disorder where three copies of chromosome 22 are present in some of the body's cells instead of the normal two. Severity of symptoms is determined by how many cells have the extra chromosomal material.

Chromosome 22- monosome mosaic

Synonyms of Chromosome 22, Trisomy Mosaic * Trisomy 22 Mosaic * Trisomy 22 Mosaicism Syndrome Chromosome 22, Trisomy Mosaic is a rare chromosomal disorder in which chromosome 22 appears three times (trisomy) rather than twice in some cells of the body. The term "mosaic" indicates that some cells contain the extra chromosome 22, whereas others have the normal chromosomal pair.

Chromosome 22- trisomy

Chromosome 22 trisomy mosaic: A rare chromosomal disorder where three copies of chromosome 22 are present in some of the body's cells instead of the normal two. Severity of symptoms is determined by how many cells have the extra chromosomal material.

Chromosome 22q13.1 Duplication Syndrome

A duplication of Chromosome 22q13 is a very rare genetic condition in which the cells of the body have a small but variable amount of extra genetic material from one of the body’s 46 chromosomes – chromosome 22. Like most other chromosome disorders, having an extra part of chromosome 22 may increase the risk of birth defects, developmental delay and intellectual disability. However, there is individual variation.

Source: Unique

Chromosome 2p deletion syndrome

A rare chromosomal disorder where part or all of the short arm (p) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.

Chromosome 3 duplication syndrome

Chromosome 3p duplication syndrome: Another name for Chromosome 3, trisomy 3p (or close medical condition association). Chromosome 3, trisomy 3p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 3 is duplicated so there is three copies of it rather than the normal two.

Chromosome 3- monosomy 3p

Chromosome 3, monosomy 3p: A rare chromosomal disorder where a portion of chromosome 3 is absent and is characterized by mental and growth deficiency, drooping upper eyelid and polydactyly.

Chromosome 3- monosomy 3p2

Chromosome 3, Monosomy 3p2: A very rare chromosomal disorder involving the deletion of the end portion of short arm of chromosome 3. Symptoms vary according to the exact size and location of the deletion.

Chromosome 3- monosomy 3p25

Chromosome 3, monosomy 3p25: A rare chromosomal disorder characterized by mental retardation, short stature, deafness, extra digits, facial anomalies and various other abnormalities.

Chromosome 3- monosomy 3q13

Chromosome 3, monosomy 3q13: A rare chromosomal disorder characterized by a range of abnormalities including facial anomalies, kidney dysfunction, large head, small penis and impaired joint mobility.

Chromosome 3- monosomy 3q21 23

Chromosome 3, monosomy 3q21-23: A very rare chromosomal disorder involving the deletion of a part of the long arm of chromosome 3 which results mainly in eye abnormalities.

Chromosome 3- trisomy 3p

Chromosome 3, trisomy 3p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 3 is duplicated so there is three copies of it rather than the normal two.

Chromosome 3- trisomy 3q

Chromosome 3, trisomy 3q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 3 is duplicated so there is three copies of it rather than the normal two. The condition is characterized by mental and growth deficiency, broad nose root and excessive hair growth.

Chromosome 3- trisomy 3q13 2 q25

Chromosome 3, trisomy 3q13 2 q25: A rare chromosomal disorder characterized by various abnormalities including hearing loss, mental retardation, short stature, obesity and uterine and facial anomalies.