Genetic Conditions > 22q11.2 deletion syndrome >

References

These sources were used to develop the Genetics Home Reference condition summary on 22q11.2 deletion syndrome.

Antshel KM, Kates WR, Roizen N, Fremont W, Shprintzen RJ. 22q11.2 deletion syndrome: genetics, neuroanatomy and cognitive/behavioral features keywords. Child Neuropsychol. 2005 Feb;11(1):5-19. Review. PubMed citation
Baldini A. DiGeorge syndrome: an update. Curr Opin Cardiol. 2004 May;19(3):201-4. Review. PubMed citation
Fine SE, Weissman A, Gerdes M, Pinto-Martin J, Zackai EH, McDonald-McGinn DM, Emanuel BS. Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome. J Autism Dev Disord. 2005 Aug;35(4):461-70. PubMed citation
Fryburg JS, Lin KY, Golden WL. Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome. Am J Med Genet. 1996 Mar 29;62(3):274-5. PubMed citation
Gene Review: 22q11.2 Deletion Syndrome
Jolin EM, Weller EB, Weller RA. A biologic model to study the genetics of psychotic, mood, and anxiety disorders: the velocardiofacial syndrome. Curr Psychiatry Rep. 2006 Apr;8(2):90-5. Review. PubMed citation
Kawame H, Adachi M, Tachibana K, Kurosawa K, Ito F, Gleason MM, Weinzimer S, Levitt-Katz L, Sullivan K, McDonald-McGinn DM. Graves' disease in patients with 22q11.2 deletion. J Pediatr. 2001 Dec;139(6):892-5. PubMed citation
Matsuoka R, Takao A, Kimura M, Imamura S, Kondo C, Joh-o K, Ikeda K, Nishibatake M, Ando M, Momma K. Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2. Am J Med Genet. 1994 Nov 15;53(3):285-9. PubMed citation
Maynard TM, Haskell GT, Lieberman JA, LaMantia AS. 22q11 DS: genomic mechanisms and gene function in DiGeorge/velocardiofacial syndrome. Int J Dev Neurosci. 2002 Jun-Aug;20(3-5):407-19. Review. PubMed citation
McDonald-McGinn DM, Driscoll DA, Bason L, Christensen K, Lynch D, Sullivan K, Canning D, Zavod W, Quinn N, Rome J. Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion. Am J Med Genet. 1995 Oct 23;59(1):103-13. PubMed citation
McDonald-McGinn DM, Driscoll DA, Bason L, Christensen K, Lynch D, Sullivan K, Canning D, Zavod W, Quinn N, Rome J. Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion. Am J Med Genet. 1995 Oct 23;59(1):103-13. PubMed citation
McDonald-McGinn DM, Gripp KW, Kirschner RE, Maisenbacher MK, Hustead V, Schauer GM, Keppler-Noreuil KM, Ciprero KL, Pasquariello P Jr, LaRossa D, Bartlett SP, Whitaker LA, Zackai EH. Craniosynostosis: another feature of the 22q11.2 deletion syndrome. Am J Med Genet A. 2005 Aug 1;136A(4):358-62. PubMed citation
McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, Finucane B, Driscoll DA, Emanuel BS, Zackai EH. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! Genet Med. 2001 Jan-Feb;3(1):23-9. PubMed citation
Paylor R, Glaser B, Mupo A, Ataliotis P, Spencer C, Sobotka A, Sparks C, Choi CH, Oghalai J, Curran S, Murphy KC, Monks S, Williams N, O'Donovan MC, Owen MJ, Scambler PJ, Lindsay E. Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. Proc Natl Acad Sci U S A. 2006 May 16;103(20):7729-34. Epub 2006 May 9. PubMed citation
Robin NH, Opitz JM, Muenke M. Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature. Am J Med Genet. 1996 Mar 29;62(3):305-17. PubMed citation
Robin NH, Shprintzen RJ. Defining the clinical spectrum of deletion 22q11.2. J Pediatr. 2005 Jul;147(1):90-6. PubMed citation
Shprintzen RJ, Higgins AM, Antshel K, Fremont W, Roizen N, Kates W. Velo-cardio-facial syndrome. Curr Opin Pediatr. 2005 Dec;17(6):725-30. Review. PubMed citation
Shprintzen RJ. Velo-cardio-facial syndrome: 30 Years of study. Dev Disabil Res Rev. 2008;14(1):3-10. Review. PubMed citation
Sullivan KE. The clinical, immunological, and molecular spectrum of chromosome 22q11.2 deletion syndrome and DiGeorge syndrome. Curr Opin Allergy Clin Immunol. 2004 Dec;4(6):505-12. Review. PubMed citation
Vorstman JA, Morcus ME, Duijff SN, Klaassen PW, Heineman-de Boer JA, Beemer FA, Swaab H, Kahn RS, van Engeland H. The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms. J Am Acad Child Adolesc Psychiatry. 2006 Sep;45(9):1104-13. PubMed citation
Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura S, Kamatani N, Momma K, Takao A, Nakazawa M, Shimizu N, Matsuoka R. Role of TBX1 in human del22q11.2 syndrome. Lancet. 2003 Oct 25;362(9393):1366-73. PubMed citation
Yamagishi H, Srivastava D. Unraveling the genetic and developmental mysteries of 22q11 deletion syndrome. Trends Mol Med. 2003 Sep;9(9):383-9. Review. PubMed citation


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