1p36 deletion syndrome
Última actualización 15 Mar 2024
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1p36 deletion syndrome is a disorder that typically causes intellectual disabilities. Most affected individuals do not speak or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behaviour 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 difficulty swallowing (dysphagia).
Descripción
1p36 deletion syndrome is a disorder that typically causes intellectual disabilities. Most affected individuals do not speak or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behaviour 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 difficulty swallowing (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 often have unusually short fingers and toes (brachydactyly), permanently bent fingers and toes (camptodactyly), and short feet. They may also have vision or hearing problems. Some affected individuals have abnormalities of the skeleton, heart, gastrointestinal system, kidneys, or genitalia.
Life expectancy varies in people with 1p36 deletion syndrome, but affected individuals can survive into early adulthood.
Patrones de herencia
The source lists the following possible inheritance patterns: Not inherited. More than one pattern can apply in different cases.
Related genes
Otros nombres
Chromosome 1p36 deletion syndrome
Distal monosomy 1p36
Monosomy 1p36 syndrome
Lecturas adicionales y referencias
- 1p36 deletion syndrome; MedlinePlus, National Library of Medicine.
- 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.
- Battaglia A. Del 1p36 syndrome: a newly emerging clinical entity. Brain Dev. 2005 Aug;27(5):358-61. doi: 10.1016/j.braindev.2004.03.011.
- 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. doi: 10.1002/ajmg.c.30154.
- 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. doi: 10.1086/375179. Epub 2003 Apr 8.
- Jacquin C, Landais E, Poirsier C, Afenjar A, Akhavi A, Bednarek N, Benech C, Bonnard A, Bosquet D, Burglen L, Callier P, Chantot-Bastaraud S, Coubes C, Coutton C, Delobel B, Descharmes M, Dupont JM, Gatinois V, Gruchy N, Guterman S, Heddar A, Herissant L, Heron D, Isidor B, Jaeger P, Jouret G, Keren B, Kuentz P, Le Caignec C, Levy J, Lopez N, Manssens Z, Martin-Coignard D, Marey I, Mignot C, Missirian C, Pebrel-Richard C, Pinson L, Puechberty J, Redon S, Sanlaville D, Spodenkiewicz M, Tabet AC, Verloes A, Vieville G, Yardin C, Vialard F, Doco-Fenzy M. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients. Am J Med Genet A. 2023 Feb;191(2):445-458. doi: 10.1002/ajmg.a.63041. Epub 2022 Nov 11.
- Lahortiga I, Vazquez I, Belloni E, Roman JP, Gasparini P, Novo FJ, Zudaire I, Pelicci PG, Hernandez 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. doi: 10.1007/s00439-005-1268-1. Epub 2005 Mar 3.
- 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. doi: 10.1016/j.ijcard.2003.04.072. No abstract available.
- Shaffer LG, Heilstedt HA. Terminal deletion of 1p36. Lancet. 2001 Dec;358 Suppl:S9. doi: 10.1016/S0140-6736(01)07022-2. No abstract available.
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