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Ring chromosome 20 syndrome
- Ring chromosome 20 syndrome is a condition that affects the normal development and function of the brain. The most common ... status epilepticus also appear to be characteristic of ring chromosome 20 syndrome. These episodes involve confusion and behavioral changes.Most ...
- ... certain facial features. More About This Health Condition Ring chromosome 20 syndrome is caused by a chromosomal abnormality known as ... and its broken ends fuse together. People with ring chromosome 20 syndrome have one copy of this abnormal chromosome in ...
- ... 10.1002/ajmg.a.35722. Epub 2012 Nov 20. Citation on PubMed Yeung A, Francis D, Giouzeppos O, Amor DJ. Pallister-Killian syndrome caused by mosaicism for a supernumerary ring chromosome 12p. Am J Med Genet A. 2009 Mar; ...
- ... in Dermatofibrosarcoma protuberans (DP). Oncogene. 2001 May 24;20(23):2965-75. ... M. 22q11 deletion syndrome: a review of the neuropsychiatric features and their ...
- ... this disorder.Epilepsy is a common feature of ring chromosome syndromes, including ring chromosome 14. There may be something ... causes signs and symptoms similar to those of ring chromosome 14 syndrome (described above). Terminal deletion 14 syndrome is caused ...
- ... of 2q detected using FISH: Further support for "ring chromosome 2 syndrome". Am J Med Genet A. 2005 Feb 1; ... LP, Bunina EN. Characterization of a small supernumerary ring marker derived ... 26;87(3):217-20. Citation on PubMed Stevens-Kroef M, Poppe B, ...
- ... chromosome 22 can also cause 22q13.3 deletion syndrome. A ring chromosome is a circular structure that occurs when a ... points is at position 22q13.3, people with ring chromosome 22 have similar ... of 22q13.3 deletion syndrome. They have determined that the loss of a ...
- ... and the other characteristic features of Beckwith-Wiedemann syndrome.About 20 percent of cases of Beckwith-Wiedemann syndrome are caused by a genetic change known as ...
- ... four copies of the duplicated segment.In about 20 percent of cases of dup15q syndrome, the duplication occurs on the q arm of ... a circular structure called ring chromosome 15. A ring chromosome occurs when a chromosome breaks in two places and the ends of the ... Battaglia A. The inv dup (15) or idic (15) syndrome (Tetrasomy 15q). Orphanet J Rare Dis. 2008 Nov ...
- ... most often deleted in people with 3q29 microdeletion syndrome includes about 20 genes. Some of these genes are thought to be involved in brain development. However, it is unknown which specific ... of 3q29 microdeletion syndrome. It is also unclear why some people with ...