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Chromosome 17 disorder
- ... the MAPT gene. This gene is located on chromosome 17, which is how the disease got its name.The MAPT gene provides instructions ... Frontotemporal dementia Frontotemporal dementia National ... Boeve BF, Hutton M. Refining frontotemporal dementia with parkinsonism linked to chromosome 17: introducing FTDP-17 (MAPT) and FTDP-17 (PGRN). ...
- Smith-Magenis syndrome is a developmental disorder that affects behavior, emotions, and learning processes. The major features of this condition include distinctive ...
- ... duplicated region contribute to other features of the disorder, such as kidney abnormalities. PMP22 RAI1 chromosome 17 YUHAL syndrome follows an autosomal dominant pattern of ...
- ... missing genetic material from the short arm of chromosome 17, which results in the health problems that are seen in people with this disorder. Lissencephaly due to 17p13.3 deletion MDLS MDS ...
- ... likely also contribute to the features of this disorder; the role of these genes is under study. RAI1 chromosome 17 This condition has an autosomal dominant pattern of ...
- ... from a small duplication of genetic material on chromosome 17. Another 10 to 12 percent of individuals with CMT1 have mutations in the MPZ gene. MPZ gene mutations are also occasionally identified in people with other forms of the disorder. The most common cause of CMT2 is mutations ...
- ... infertile. 48,XXXY syndrome affects between 1 in 17,000 and 1 in 50,000 newborn boys. It is a relatively uncommon sex chromosome disorder, which is a group of conditions caused by ...
- ... can occur in 17q12 deletion syndrome. HNF1B LHX1 chromosome 17 This condition is inherited in an autosomal dominant pattern, which means one copy of the chromosomal deletion in each cell is sufficient to cause the disorder.Most cases of 17q12 deletion syndrome result from ...
- ... of Koolen-de Vries syndrome is unclear. KANSL1 chromosome 17 Koolen-de Vries syndrome is considered an autosomal dominant condition because a deletion or mutation affecting one copy of the KANSL1 gene in each cell is sufficient to cause the disorder. In most cases, the disorder is not inherited. ...
- ... SJ, Eichler EE. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet. 2006 Sep;38(9):1038-42. doi: 10.1038/ng1862. Epub 2006 Aug 13. Citation on PubMed
