Encyclopedia
10q26 deletion syndrome is a condition that results from the loss (deletion) of a small piece of chromosome 10 in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated 10q26.
- genetic conditions
Frequency
10q26 deletion syndrome is thought to be a rare condition; at least 100 cases have been described in the scientific literature.
Causes
People with a 10q26 deletion syndrome are missing between 3.5 million and 17 million DNA building blocks (base pairs), also written as 3.5-17 megabases (Mb), at position q26 on chromosome 10. The exact size of the deletion varies, and it is unclear what exact region needs to be deleted to cause the condition. In many affected individuals, the 10q26 deletions include the tip of the q arm of chromosome 10; however, some smaller deletions occur within the arm of the chromosome.
The signs and symptoms of 10q26 deletion syndrome are probably related to the loss of one or more genes in the deleted region. However, it is unclear which missing genes contribute to the specific features of the disorder.
Inheritance
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered chromosome in each cell is sufficient to cause the disorder.
This condition may be inherited or occur as a result of a new chromosomal change. In some cases, an affected person inherits the chromosome with a deleted segment from a parent. Other cases result from a deletion that occurs during the formation of reproductive cells (eggs or sperm) in an affected individual's parent or in early fetal development. These cases occur in people with no history of the disorder in their family.
Other Names for This Condition
- 10qter deletion
- chromosome 10q26 deletion syndrome
- distal 10q deletion syndrome
- distal deletion 10q
- distal monosomy 10q
- monosomy 10qter
- telomeric deletion 10
- terminal chromosome 10q26 deletion syndrome
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/10q26-deletion-syndrome
References
- Lin S, Zhou Y, Fang Q, Wu J, Zhang Z, Ji Y, Luo Y. Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature. Mol Med Rep. 2016 Dec;14(6):5134-5140. doi: 10.3892/mmr.2016.5864.
- Vera-Carbonell A, López-González V, Bafalliu JA, Ballesta-Martínez MJ, Fernández A, Guillén-Navarro E, López-Expósito I. Clinical comparison of 10q26 overlapping deletions: delineating the critical region for urogenital anomalies. Am J Med Genet A. 2015 Apr;167A(4):786-90. doi: 10.1002/ajmg.a.36949.
- Yatsenko SA, Kruer MC, Bader PI, Corzo D, Schuette J, Keegan CE, Nowakowska B, Peacock S, Cai WW, Peiffer DA, Gunderson KL, Ou Z, Chinault AC, Cheung SW. Identification of critical regions for clinical features of distal 10q deletion syndrome. Clin Genet. 2009 Jul;76(1):54-62. doi: 10.1111/j.1399-0004.2008.01115.x.
