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Chromosomal deletion syndromes result from deletion of parts of chromosomes. Depending on the location, size, and whom the deletion is inherited from, there are a few known different variations of chromosome deletions. Chromosomal deletion syndromes typically involve larger deletions that are visible using karyotyping techniques.
The following is a list of genetic disorders and if known, ... 1p36 deletion syndrome: 1 D 1:7,500 1q21.1 deletion syndrome: 1q21.1 D 2q37 deletion syndrome:
Chinese Restaurant Syndrome; Chromosomal deletion syndrome; 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 ...
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 ...
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [7] While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental disability, intellectual disability and cleft palate. [7]
1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location of the chromosomal deletion.
10q26 deletion is an extremely rare genetic syndrome caused by terminal deletion of the long arm of chromosome 10 at 10q26. [1] It is usually a de novo mutation.Symptoms can include "growth and mental retardation, microcephaly, triangular face, strabismus, hypertelorism, prominent nasal bridge, beaked or prominent nose, low-set dysplastic ears, various congenital heart defects, cryptorchidism ...
13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13. Depending upon the size and location of the deletion on chromosome 13, the physical and mental manifestations will vary. It has the potential to cause intellectual disability and congenital malformations that affect a ...