Diseases

Chromosome 17 ring

Chromosome 17 ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 17 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 17 Trisomy Mosaicism

Trisomy 17 mosaicism is a chromosomal abnormality in which there are three copies of chromosome 17 in some cells of the body, rather than the usual two copies. Trisomy 17 mosaicism is one of the rarest trisomies in humans. It is often incorrectly called trisomy 17 (also referred to as full trisomy 17), which is when three copies of chromosome 17 are present in all cells of the body. Full trisomy 17 has never been reported in a living individual in the medical literature. 

Chromosome 17- deletion 17q23 q24

Chromosome 17, deletion 17q23 q24: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.

Chromosome 17- trisomy 17q22

Chromosome 17, trisomy 17p11.2: A rare chromosomal disorder where a portion of the short arm of chromosome 17 is duplicated.

Chromosome 18 mosaic monosomy

Chromosome 18, Monosomy 18p is a rare chromosomal disorder in which all or part of the short arm (p) of chromosome 18 is deleted (monosomic). The disorder is typically characterized by short stature, variable degrees of mental retardation, speech delays, malformations of the skull and facial (craniofacial) region, and/or additional physical abnormalities.

Chromosome 18 ring

Chromosome 18 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 18 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 18- deletion 18q23

Chromosome 18, deletion 18q23: A very rare syndrome caused by a deletion of a part of the material on chromosome 18 and resulting in various abnormalities such as retarded growth, hearing loss and mental retardation. The abnormalities vary from patient to patient.

Chromosome 18- tetrasomy 18p

Chromosome 18, Tetrasomy 18p: A rare chromosomal disorder where there are four copies of short arm of chromosome 18 instead of the normal two which results in various genital, kidney, digital, head and face abnormalities.

Chromosome 18- trisomy 18p

Chromosome 18, trisomy 18p: A rare chromosomal disorder where a portion of the short arm (p) is duplicated resulting in various abnormalities.

Chromosome 18- trisomy 18q

Chromosome 18, trisomy 18q: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.

Chromosome 18p deletion syndrome

Chromosome 18p deletion syndrome: Another name for 18p minus syndrome (or close medical condition association). 18p minus syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing which is characterized by mental and growth deficiencies, drooping upper eyelid and prominent ears. The type and severity of symptoms is determined by the amount of genetic material that is missing.

Chromosome 19 ring

Chromosome 19 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 19 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 19 ring syndrome

Chromosome 19 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 19 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 19- trisomy 19q

Chromosome 19q, partial duplication: A rare chromosomal disorder where the long arm of chromosome is triplicated. The type and severity of symptoms is determined by the size of the duplicated genetic portion.

Chromosome 1q deletion

1q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.

Chromosome 2- monosomy 2p22

Chromosome 2, monosomy 2p22: A rare chromosomal disorder where deletion of a portion of chromosome 2 causes various abnormalities such as deafness, intestinal problems, mental retardation and speech defects.

Chromosome 2- monosomy 2pter p24

Chromosome 2, monosomy 2pter p24: A very rare chromosomal disorder where a portion of chromosome 2 is deleted resulting in a range of birth defects and abnormalities.

Chromosome 2- monosomy 2q24

Deletion 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.

Chromosome 2- monosomy 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 2- trisomy 2p

Trisomy 2p (medical condition): A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated Chromosome 2p duplication syndrome: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.