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2p15-16.1 microdeletion is an extremely rare genetic disorder caused by a small deletion in the short arm of human chromosome 2. First described in two patients in 2007, [ 1 ] by 2013 only 21 [ citation needed ] people have been reported as having the disorder in the medical literature .
Parents carrying the deletion often have no history of intellectual disability or autism spectrum disorder. [1] [2] [10] Prevalence of 16p11.2 deletion syndrome was initially estimated to be 3 in 10,000 in the general population, [3] [11] though more recent estimates have increased to 1 in 2,000. [2]
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 ...
1p36 deletion syndrome is caused by the deletion of the most distal light band of the short arm of chromosome 1. [5] Human chromosome 1. The breakpoints for 1p36 deletion syndrome have been variable and are most commonly found from 1p36.13 to 1p36.33. 40 percent of all breakpoints occur 3 to 5 million base pairs from the telomere. The size of ...
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.
17q12 microdeletion syndrome, also known as 17q12 deletion syndrome, is 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 typified by deletion of the HNF1B gene, resulting in kidney abnormalities and renal cysts and diabetes syndrome .
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The characteristic micro-deletion was sometimes overlooked in a standard FISH test, leading to a number of people with the symptoms of SMS with negative results. [ citation needed ] The recent development of the FISH for 17p11.2 deletion test has allowed more accurate detection of this deletion. [ 12 ]