Genetic Conditions > 1p36 deletion syndrome >

References

These sources were used to develop the Genetics Home Reference condition summary on 1p36 deletion syndrome.

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]. PubMed citation
Battaglia A. Del 1p36 syndrome: a newly emerging clinical entity. Brain Dev. 2005 Aug;27(5):358-61. Review. PubMed citation
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. PubMed citation
Gene Review: 1p36 Deletion Syndrome
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. PubMed citation
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. PubMed citation
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. PubMed citation
Shaffer LG, Heilstedt HA. Terminal deletion of 1p36. Lancet. 2001 Dec;358 Suppl:S9. PubMed citation


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