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Frequency. 1 in 5,000 to 1 in 10,000. 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.
10q26 deletion. 10q26 deletion. 10q26 deletion has an autosomal dominant inheritance pattern. Specialty. Medical genetics. 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.
Chromosome 10 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 10 spans about 134 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the total DNA in cells .
Affected individuals may have a somewhat shortened lifespan without treatment. The maximum lifespan without treatment is 67 years. When a 13q deletion is detected, such as in a bone marrow biopsy for Multiple Myeloma, chemo treatments in recent years have the ability to extend life expectancy without limitations depending on response to treatments.
Approximately 80-90% of patients have a deletion of 3 Mb and 8% have a deletion of 1.5Mb. The number of genes affected by the deletion has been cited as approximately 30 to 50. Very rarely, patients with somewhat similar clinical features may have deletions on the short arm of chromosome 10.
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]
Cri du chat syndrome is due to a partial deletion of the short arm of chromosome number 5, also called "5p monosomy " or "partial monosomy." Approximately 90% of cases result from a sporadic, or randomly occurring, de novo deletion. The remaining 10–15% are due to unequal segregation of a parental balanced translocation where the 5p monosomy ...
Monosomy 9p (also known as Alfi's Syndrome or simply 9P-) is a rare chromosomal disorder in which some DNA is missing or has been deleted on the short arm region, "p", of one copy of chromosome 9 (9p22.2-p23). This deletion either happens de novo or as a result of a parent having the chromosome abnormality.
Kleefstra syndrome affects males and females equally and approximately 75% of all documented cases are caused by Eu-HMTase1 disruptions while only 25% are caused by 9q34.3 deletions. [3] There are no statistics on the effect the disease has on life expectancy due to the lack of information available.
18p-. 18p-. Other names. Partial monosomy 18p, de Grouchy syndrome type 1. In situ hybridization. 18p (green) and 18q (red) with subtelomeric probes showing 18p deletion in the patient with De Grouchy syndrome type I (deletion 18p) Specialty. Medical genetics. 18p- is a genetic condition caused by a deletion of all or part of the short arm (the ...