Chromosome 1

Related Health Conditions

• 1p36 deletion syndrome

  1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. The signs and symptoms of this disorder include intellectual disabilities, distinctive facial features, and structural abnormalities in several body systems. In about 50 percent of people with this condition, the deleted region includes the tip of the p arm of chromosome 1. The size of the deletion varies among affected individuals. The signs and symptoms of 1p36 deletion syndrome are likely caused by the loss of multiple genes that are involved in the development of systems such as the brain, heart, and skeleton.

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• 1q21.1 microdeletion

  1q21.1 microdeletion is a chromosomal change in which a small piece of the long (q) arm of chromosome 1 is deleted in each cell. Most commonly, affected individuals are missing about 1.35 million base pairs, also written as 1.35 megabases (Mb), in the q21.1 region. However, the exact size of the deleted region varies. The loss of multiple genes from this region probably contributes to the various signs and symptoms that are associated with a 1q21.1 microdeletion. Related features can include delayed development, intellectual disabilities, physical abnormalities, and neurological and psychiatric problems; however, some individuals with a 1q21.1 microdeletion have no obvious signs or symptoms.

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• 1q21.1 microduplication

  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. Some people with a 1q21.1 microduplication have developmental delays, intellectual disabilities, or features of autism spectrum disorder, which ischaracterized by impaired communication and socialization skills. Affected individuals may also have psychiatric disorders, such as schizophrenia; malformations of the heart; or other neurological or physical features. Other individuals with 1q21.1 microduplications have no identified physical, intellectual, or behavioral problems.

  1q21.1 microduplications usually involve the same segment of about 1.35 million base pairs that is missing in people with 1q21.1 microdeletions (described above). In other cases, individuals have a shorter or longer duplicated segment within the q21.1 region of chromosome 1. Extra copies of genes in the duplicated segment likely contribute to the signs and symptoms that occur in some individuals with 1q21.1 microduplications.

  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.

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• Neuroblastoma

  Deletions in the  1p36 region of chromosome 1 have also been associated with another condition called neuroblastoma. Neuroblastoma is a type of cancerous tumor composed of immature nerve cells (neuroblasts). These deletions are somatic variants (also called mutations), which means they occur during a person's lifetime and are present only in the cells that become cancerous. 

  About 25 percent of people with neuroblastoma have a more severe form of the condition that is caused by the deletion of 1p36.1-1p36.3. Researchers believe the deleted region could contain a gene called a tumor suppressor gene that keeps cells from growing and dividing too quickly or in an uncontrolled way. When tumor suppressor genes are deleted, cancer can occur. 

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• Thrombocytopenia-absent radius syndrome

  A deletion in the 1q21.1 region of chromosome 1 is involved in most cases of thrombocytopenia-absent radius (TAR) syndrome. TAR syndrome is characterized by the absence of a bone called the radius in each forearm and a shortage (deficiency) of blood cells that are involved in clotting (platelets).

  The deletion in chromosome 1 that is associated with TAR syndrome eliminates at least 200,000 DNA base pairs (200 kilobases, or 200 kb) from the q arm of the chromosome, including a gene called RBM8A.  Most people with TAR syndrome have the deletion in one copy of chromosome 1, which removes one copy of the RBM8A gene, and a variant in the other copy of the RBM8A gene in each cell. The RBM8A gene provides instructions for making a protein called RNA-binding motif protein 8A. This protein is believed to be involved in a number of important cellular functions that produce other proteins.

  The RBM8A gene variants that cause TAR syndrome reduce the amount of RNA-binding motif protein 8A in cells. The deletion on chromosome 1 eliminates one copy of the RBM8A gene in each cell and the RNA-binding motif protein 8A that would have been produced from it. The reduced amount of RNA-binding motif protein 8A is thought to cause problems in the development of certain tissues, but it is unknown how it causes the specific signs and symptoms of TAR syndrome. No cases have been reported in which individuals have deletions that remove both copies of the RBM8A gene; studies indicate that the complete loss of RNA-binding motif protein 8A is not compatible with life.

  Researchers sometimes refer to the deletion in chromosome 1 that is associated with TAR syndrome as the 200-kb deletion to distinguish it from another chromosomal abnormality called a 1q21.1 microdeletion (described above). People with a 1q21.1 microdeletion are missing a different, larger DNA segment in the chromosome 1q21.1 region near the area where the 200-kb deletion occurs.

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• Other chromosomal conditions

  Other changes in the structure or number of copies of chromosome 1 can have a variety of effects, including delayed growth and development, distinctive facial features, birth defects, and other health problems. Changes to chromosome 1 may include an extra segment of the p or q arm of the chromosome in each cell (partial trisomy 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 places and the ends of the chromosome arms fuse together to form a circular structure.

• Other cancers

  Somatic changes in the structure of chromosome 1 are associated with other forms of cancer and conditions related to cancer.

  Deletions in the p arm of the chromosome have been identified in tumors of the brain and kidney. Duplications in the q arm of the chromosome have been reported in people with a disorder called myelodysplastic syndrome, which is a disease of the blood and bone marrow. People with this condition have a low number of red blood cells (anemia) and an increased risk of developing leukemia.