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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.
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.
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 ]
The ring is formed when the caps on both the long arm (q) and the short arm (p) of one copy of chromosome 18 are lost and the new ends re-join to form the ring. Because the ring involves deletions of both the long arm (18q-) and the short arm (18p-) of chromosome 18, individuals with ring 18 can have features of both 18p-as well as distal 18q-.
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.
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.
Learn about the causes, effects, and types of chromosomal deletion syndromes, which result from missing parts of chromosomes. Find out how deletions affect genes, development, and health conditions such as cri du chat, Wolf-Hirschhorn, Prader-Willi, and Angelman syndromes.