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Partial deletion of the short arm of chromosome 16
- ... genes are missing as a result of this deletion in the short arm of chromosome 16. The deleted region includes the CREBBP gene, which ... medical problems are common. Frequent changes to chromosome 16 include an ... chromosome in each cell (partial trisomy 16p or 16q) and a missing segment ...
- ... blocks (3 megabases or 3 Mb) on the short arm of chromosome 19. The region ... thought to include at least 16 genes. This deletion affects one of the two ...
- ... that deletes genes near the end of the short arm of chromosome 4. A loss of these genes results in the ... Genetic Testing Registry: 4p partial ...
- ... WAGR syndrome (described below) is caused by a deletion of genetic material from the short arm of chromosome 11 at a position designated 11p13. Occasionally, a ...
- ... cat's cry) syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p- ( ... severe intellectual disability and developmental delays than smaller ... short arm of chromosome 5 that are associated with particular features of ...
- ... 1p or 1q), a missing segment of the short or long arm of the chromosome in each cell (partial monosomy 1p or 1q), or a circular structure called ring chromosome 1. Ring chromosomes occur when a chromosome breaks in two ... and conditions related to cancer. Deletions in the p arm of the chromosome have ...
- ... another chromosome. Other cases are caused by the deletion of several genes, including GLI3, from the short arm of chromosome 7. The loss of multiple genes can cause ...
- ... health problems. Changes to chromosome 6 may include deletions or duplications of genetic material in the short (p) or long (q) arm of the chromosome in each cell, or a circular structure called ...
- ... Less commonly, the deletion occurs within the long arm of the chromosome, which is known as an interstitial deletion. The size of the deletion varies among affected individuals, with most affected people missing 5 million to 16 million DNA building blocks (base pairs). Larger deletions ...
- ... occurs when a piece of the long (q) arm of chromosome 18 is missing. The term ... include short stature (often due to growth hormone deficiency), weak ...