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1p36 deletion syndrome

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Description

1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more than half of individuals with this disorder. Affected individuals usually have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia).

People with 1p36 deletion syndrome have a small head that is also unusually short and wide in proportion to its size (microbrachycephaly). Affected individuals also have distinctive facial features including deep-set eyes with straight eyebrows; a sunken appearance of the middle of the face (midface hypoplasia); a broad, flat nose; a long area between the nose and mouth (philtrum); a pointed chin; and ears that are low-set, rotated backwards, and abnormally shaped.

People with 1p36 deletion syndrome may have vision or hearing problems. Some have abnormalities of the skeleton, heart, gastrointestinal system, kidneys, or genitalia.

Frequency

1p36 deletion syndrome is believed to affect between 1 in 5,000 and 1 in 10,000 newborns. However, this may be an underestimate because some affected individuals are likely never diagnosed.

Causes

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 1p36 deletion syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals.

Inheritance

Most cases of 1p36 deletion syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family.

About 20 percent of people with 1p36 deletion syndrome inherit the chromosome with a deleted segment from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with 1p36 deletion syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 1, which results in birth defects and other health problems characteristic of this disorder.

Other Names for This Condition

  • chromosome 1p36 deletion syndrome
  • distal monosomy 1p36
  • monosomy 1p36 syndrome

Additional Information & Resources

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Research Studies from ClinicalTrials.gov

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

  • Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics. 2008 Feb;121(2):404-10. doi: 10.1542/peds.2007-0929. Erratum in: Pediatrics. 2008 May;121(5):1081. Braley, Lisa L [corrected to Brailey, Lisa L]. Citation on PubMed
  • Battaglia A. Del 1p36 syndrome: a newly emerging clinical entity. Brain Dev. 2005 Aug;27(5):358-61. Review. Citation on PubMed
  • Gajecka M, Mackay KL, Shaffer LG. Monosomy 1p36 deletion syndrome. Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):346-56. Review. Citation on PubMed
  • Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, Bacino CA, Shapira SK, Shaffer LG. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet. 2003 May;72(5):1200-12. Epub 2003 Apr 8. Citation on PubMed or Free article on PubMed Central
  • Lahortiga I, Vázquez I, Belloni E, Román JP, Gasparini P, Novo FJ, Zudaire I, Pelicci PG, Hernández JM, Calasanz MJ, Odero MD. FISH analysis of hematological neoplasias with 1p36 rearrangements allows the definition of a cluster of 2.5 Mb included in the minimal region deleted in 1p36 deletion syndrome. Hum Genet. 2005 May;116(6):476-85. Epub 2005 Mar 3. Citation on PubMed
  • Lee ML, Tsao LY, Wang BT, Lee MH, Chiu IS. Revisit on a distinctive chromosome 1p36 deletion syndrome: report of one case and review of the English literature. Int J Cardiol. 2004 Sep;96(3):477-80. Review. Citation on PubMed
  • Shaffer LG, Heilstedt HA. Terminal deletion of 1p36. Lancet. 2001 Dec;358 Suppl:S9. Citation on PubMed
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