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Distal 18q- is a rare disorder caused by a deletion of genetic material in the distal section of the long arm of chromosome 18. It affects various systems and causes intellectual disability, congenital anomalies, dysmorphic features, and increased risk of infections and psychiatric conditions.
Currently, research is focusing on identifying the role of the genes on 18p and 18q in causing the signs and symptoms associated with deletions of 18p and/or 18q. This will ultimately enable predictive genotyping. Thus far, several genes on chromosome 18 have been linked with a phenotypic effect. [citation needed]
Trisomy 18, also known as Edwards syndrome, is a rare condition caused by the presence of an extra copy of chromosome 18 in all or part of the cells. It affects many parts of the body and causes severe intellectual disability, heart defects, and a high mortality rate.
Learn about chromosome 18, one of the 23 pairs of chromosomes in humans. Find out its length, number of genes, partial gene list, and diseases related to its abnormalities.
18p- syndrome is a genetic condition caused by a deletion of part of chromosome 18. It affects growth, development, facial features, brain structure, and immunity. Learn about the signs, causes, diagnosis, and treatment of this rare disorder.
Triploid syndrome is a chromosomal disorder in which a fetus has three copies of every chromosome instead of the normal two. It causes severe birth defects, miscarriage, and early death in most cases.
Proximal 18q-is a rare genetic condition caused by a deletion of genetic material within one of the two copies of chromosome 18. This deletion involves the proximal (near the centromere ) section of the long arm of chromosome 18 somewhere between 18q11.2 (18.9 Mb) to 18q21.1 (43.8 Mb). [ 1 ]
A rare chromosomal anomaly caused by the deletion of a small amount of material from a region in the long arm of chromosome 17. It is associated with kidney problems, diabetes, reproductive anomalies, neuroatypicality, autism and schizophrenia.