13q deletion syndrome is inherited in an autosomal dominant manner
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 variety of organ systems. Because of the rarity of the disease in addition to the variations in the disease, the specific genes that cause this disease are unknown.[1] This disease is also known as:
13q- Syndrome, Partial,
Deletion 13q Syndrome, Partial
Monosomy 13q, Partial
Partial Monosomy of the Long Arm of Chromosome 13 [2]
^Wang, Y. P.; Wang, D. J.; Niu, Z. B.; Cui, W. T. (2017). "Chromosome 13q deletion syndrome involving 13q31-qter: A case report". Molecular Medicine Reports. 15 (6): 3658–3664. doi:10.3892/mmr.2017.6425. PMC 5436299. PMID 28393221.
13qdeletionsyndrome 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...
(2009). "Clinical variability of Waardenburg–Shah syndrome in patients with proximal 13qdeletionsyndrome including the endothelin-B receptor locus". American...
syndrome, short rib–polydactyly syndrome type 1, Townes–Brocks syndrome, 13qdeletionsyndrome, urorectal septum malformation sequence and the OEIS complex...
disorders are some of those related to genes on chromosome 13: 13qdeletionsyndrome Bipolar disorder Bladder cancer Breast cancer Heterochromia Hirschsprung's...
smoking, previous chemotherapy or radiation therapy, myelodysplastic syndrome, and exposure to the chemical benzene. The underlying mechanism involves...
as chronic lymphocytic leukemia. Cri du Chat (CdC) is a syndrome caused by a partial deletion of the short arm of chromosome 5. Several studies have shown...
of 8–10 years; deletion of chromosome 13q is associated with a median OS of 17 years; and trisomy of chromosome 12, as well as deletion of chromosome 11q...
genetic findings that may be associated with poor outcomes include: 13qdeletion, 7q gain, ID3 and CCND3 double-hit mutations, and 18q21 CN-LOH mutations...
tract). Radiation exposure Somatic mutation, such as deletion of chromosome 9q, 9p, 11p, 17p, 13q, 14q and overexpression of RAS (oncogene) and epidermal...
Abeliovich D (November 2001). "A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation...
cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere". American Journal of Human Genetics. 66...
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