The deletion in chromosome 1 involved in TAR syndrome eliminates at least 200,000 DNA building blocks (200 kilobases, or 200 kb) from the long (q) arm of the chromosome, including a gene called RBM8A. TAR syndrome is characterized by the absence of a bone called the radius in each forearm and a shortage (deficiency) of blood cells involved in clotting (platelets). More About This Health ConditionĪ deletion in the 1q21.1 region of chromosome 1 is involved in most cases of thrombocytopenia-absent radius (TAR) syndrome. Because some people with a 1q21.1 microduplication have no apparent features of the condition, additional genetic or environmental factors are thought to be involved in the development of signs and symptoms. Extra copies of genes in the duplicated segment likely contribute to the signs and symptoms that occur in some individuals with 1q21.1 microduplications researchers are working to determine which specific genes are involved and how they relate to these features. In other cases, individuals have a shorter or longer duplicated segment within the q21.1 region of chromosome 1. Other individuals with 1q21.1 microduplications have no identified physical, intellectual, or behavioral problems.ġq21.1 microduplications most often involve the same segment of about 1.35 million base pairs that is missing in 1q21.1 microdeletions (described above). Affected individuals may also have psychiatric disorders such as schizophrenia, malformations of the heart, or other neurological or physical features. Some people with a 1q21.1 microduplication have developmental delay, intellectual disability, or features of autism spectrum disorders characterized by impaired communication and socialization skills. A 1q21.1 microduplication is a copied (duplicated) segment of genetic material at position q21.1 on one of the two copies of chromosome 1 in each cell.
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