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Yang, C. 2q37 Deletion Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4122 (accessed on 26 September 2026).
Yang C. 2q37 Deletion Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4122. Accessed September 26, 2026.
Yang, Catherine. "2q37 Deletion Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4122 (accessed September 26, 2026).
Yang, C. (2020, December 23). 2q37 Deletion Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4122
Yang, Catherine. "2q37 Deletion Syndrome." Encyclopedia. Web. 23 December, 2020.
2q37 Deletion Syndrome
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/2q37-deletion-syndrome

2q37 deletion syndrome is a condition that can affect many parts of the body. Most babies with 2q37 deletion syndrome are born with weak muscle tone (hypotonia), which usually improves with age. Other neurological abnormalities that are common in affected individuals include mild to severe intellectual disability; delayed development of motor skills, such as sitting and walking; and behavioral problems. About 25 percent of people with this condition have autism spectrum disorder, a developmental condition that affects communication and social interaction.

genetic conditions

References

  1. Aldred MA, Sanford RO, Thomas NS, Barrow MA, Wilson LC, Brueton LA, BonagliaMC, Hennekam RC, Eng C, Dennis NR, Trembath RC. Molecular analysis of 20 patientswith 2q37.3 monosomy: definition of minimum deletion intervals for keyphenotypes. J Med Genet. 2004 Jun;41(6):433-9.
  2. Casas KA, Mononen TK, Mikail CN, Hassed SJ, Li S, Mulvihill JJ, Lin HJ, FalkRE. Chromosome 2q terminal deletion: report of 6 new patients and review ofphenotype-breakpoint correlations in 66 individuals. Am J Med Genet A. 2004 Nov1;130A(4):331-9.
  3. Fisch GS, Falk RE, Carey JC, Imitola J, Sederberg M, Caravalho KS, South S.Deletion 2q37 syndrome: Cognitive-behavioral trajectories and autistic featuresrelated to breakpoint and deletion size. Am J Med Genet A. 2016Sep;170(9):2282-91. doi: 10.1002/ajmg.a.37782.
  4. Jean-Marçais N, Decamp M, Gérard M, Ribault V, Andrieux J, Kottler ML, PlessisG. The first familial case of inherited 2q37.3 interstitial deletion withisolated skeletal abnormalities including brachydactyly type E and short stature.Am J Med Genet A. 2015 Jan;167A(1):185-9. doi: 10.1002/ajmg.a.36428.
  5. Leroy C, Landais E, Briault S, David A, Tassy O, Gruchy N, Delobel B, GrégoireMJ, Leheup B, Taine L, Lacombe D, Delrue MA, Toutain A, Paubel A, Mugneret F,Thauvin-Robinet C, Arpin S, Le Caignec C, Jonveaux P, Beri M, Leporrier N, Motte J, Fiquet C, Brichet O, Mozelle-Nivoix M, Sabouraud P, Golovkine N, Bednarek N,Gaillard D, Doco-Fenzy M. The 2q37-deletion syndrome: an update of the clinicalspectrum including overweight, brachydactyly and behavioural features in 14 newpatients. Eur J Hum Genet. 2013 Jun;21(6):602-12. doi: 10.1038/ejhg.2012.230.
  6. Morris B, Etoubleau C, Bourthoumieu S, Reynaud-Perrine S, Laroche C, Lebbar A,Yardin C, Elsea SH. Dose dependent expression of HDAC4 causes variableexpressivity in a novel inherited case of brachydactyly mental retardationsyndrome. Am J Med Genet A. 2012 Aug;158A(8):2015-20. doi: 10.1002/ajmg.a.35463.
  7. Williams SR, Aldred MA, Der Kaloustian VM, Halal F, Gowans G, McLeod DR,Zondag S, Toriello HV, Magenis RE, Elsea SH. Haploinsufficiency of HDAC4 causesbrachydactyly mental retardation syndrome, with brachydactyly type E,developmental delays, and behavioral problems. Am J Hum Genet. 2010 Aug13;87(2):219-28. doi: 10.1016/j.ajhg.2010.07.011.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
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Entry Collection: MedlinePlus
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Update Date: 23 Dec 2020
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