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Partial duplication of the long arm of chromosome 22
- ... M, Tiziano F, Di Stefano C, Neri G. Partial duplication of the long arm of chromosome 15: confirmation of a causative role in craniosynostosis and definition of a 15q25-qter trisomy syndrome. Am J Med Genet. 1999 Dec 22;87(5):391-4. doi: 10.1002/(sici) ...
- ... other problems that affect some people with this duplication. More About This Health Condition 22q13.3 deletion syndrome, which is also commonly known as Phelan-McDermid syndrome, is caused by a deletion near the end of the long (q) arm of chromosome 22. A ring chromosome 22 can also cause 22q13. ...
- ... or 16q) and a missing segment of the long arm of the chromosome in each cell ... syndrome, which is characterized by intellectual disability, distinctive ...
- ... written as 1.4 megabases (Mb), on the long (q) arm of the chromosome at a position designated q12. It is the same region of chromosome 17 that is abnormally copied (duplicated) in people with a 17q12 duplication (described below). This chromosome segment is prone to ...
- Newborn Screening/Reference Desk ... Newborn Screening ... Genetic Testing/Reference Desk ... Genetic Testing ... National Center for Biotechnology Information ... From the National ...
- ... SATB2. Some mutations remove genetic material from the long arm of chromosome 2. These deletions occur in regions designated 2q32 ... loss of other genes near SATB2 on the long arm of chromosome 2. More About This Health Condition Another chromosome ...
- ... genetic material at the end (terminus) of the long (q) arm of chromosome 11. The size of the deletion varies among ... have a deletion of genetic material on the long (q) arm of chromosome 11 at a position designated 11q23. Neuroblastoma is ...
- ... remove (delete) small pieces of DNA from the long (q) arm of chromosome 13. These changes are known as 13q31.3 ... More About This Health Condition Partial monosomy and partial trisomy of chromosome 13 occur when a portion of the q arm of this chromosome is deleted or duplicated, respectively. ...
(National Center for Biotechnology Information) 