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Chromosome 11 is one of the 23 pairs of chromosomes in humans. Humans normally have two copies of this chromosome. Chromosome 11 spans about 135 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the total DNA in cells. The shorter arm (p arm) is termed 11p while the longer arm (q arm) is 11q.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Jacobsen syndrome is a rare chromosomal disorder resulting from deletion of genes from chromosome 11 that includes band 11q24.1. It is a congenital disorder. Since the deletion takes place on the q arm of chromosome 11, it is also called 11q terminal deletion disorder. [1] The deletion may range from 5 million to 16 million deleted DNA base ...
When the chromosome's structure is altered, this can take several forms: [16] Deletions: A portion of the chromosome is missing or has been deleted. Known disorders in humans include Wolf–Hirschhorn syndrome, which is caused by partial deletion of the short arm of chromosome 4; and Jacobsen syndrome, also called the terminal 11q deletion ...
Chromosome instability syndromes include several inherited neurodegenerative diseases that are due to mutations in genes that encode enzymes necessary for DNA repair. Epigenetic alterations often occur in association with the DNA repair defect, and such alterations likely have a role in the etiology of the disease. Chromosome instability ...
The sons of a man with an X-linked recessive disorder will not be affected (since they receive their father's Y chromosome), but his daughters will be carriers of one copy of the mutated gene. A woman who is a carrier of an X-linked recessive disorder (X R X r ) has a 50% chance of having sons who are affected and a 50% chance of having ...
Chromosome 5q deletion syndrome; Chronic fatigue syndrome; Chronic functional abdominal pain; Chronic infantile neurologic cutaneous and articular syndrome; Chronic Lyme disease; Chronic prostatitis/chronic pelvic pain syndrome; Churg–Strauss syndrome; Chédiak–Higashi syndrome; Claude's syndrome; Clinically isolated syndrome; CLOVES ...
With an incidence of 1 in 15,000 to 1 in 50,000 live births, it is suggested to be one of the most common contiguous gene deletion disorders. 5p deletions are most common de novo occurrences, which are paternal in origin in 80–90% of cases, possibly arising from chromosome breakage during gamete formation in males [citation needed]