CHROMOSOME 22 CENTRAL 
SUPPORT FOR ALL CHROMOSOME 22 RELATED DISORDERS 

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• 22q11 Deletion Syndrome (DiGeorge Syndrome, Velocardiofacial Syndrome)

• Microduplication 22q11 Syndrome

• The 11/22 Translocation (Emanuel Syndrome, partial trisomy 11/22)

• 22q13 Deletion Syndrome (Phelan-McDermid Syndrome)

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22q13.3 DELETION ARTICLES

 Philippe A, Boddaert N, Vaivre-Douret L, Robel L, Danon-Boileau L, Malan V, de Blois MC, Heron D, Colleaux L, Golse B, Zilbovicius M, Munnich A. Neurobehavioral Profile and Brain Imaging Study of the 22q13.3 Deletion Syndrome in Childhood. Pediatrics. 2008 Jul 14.

Wilson HL, Crolla JA, Walker D, Artifoni L, Dallapiccola B, Takano T, Vasudevan P, Huang S, Maloney V, Yobb T, Quarrell O, McDermid HE. Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development. Eur J Hum Genet. 2008 Jun 4.

Phelan MC.  Deletion 22q13.3 syndrome. Orphanet J Rare Dis. 2008 May 27;3(1):14.

Tufano M, Della Corte C, Cirillo F, Spagnuolo MI, Candusso M, Melis D, Torre G, Iorio R. Fulminant autoimmune hepatitis in a girl with 22q13 deletion syndrome: a previously unreported association. Eur J Pediatr. 2008 May 14.

Tagaya M, Mizuno S, Hayakawa M, Yokotsuka T, Shimizu S, Fujimaki H. Recombination of a maternal pericentric inversion results in 22q13 deletion syndrome. Clin Dysmorphol. 2008 Jan;17(1):19-21.

Okamoto N, Kubota T, Nakamura Y, Murakami R, Nishikubo T, Tanaka I, Takahashi Y, Hayashi S, Imoto I, Inazawa J, Hosokai N, Kohsaka S, Uchino S. 22q13 microduplication in two patients with common clinical manifestations: A recognizable syndrome? Am J Med Genet A. 2007 Nov 1

Cusmano-Ozog K, Manning MA, Hoyme HE. 22q13.3 deletion syndrome: A recognizable malformation syndrome associated with marked speech and language delay. Am J Med Genet C Semin Med Genet. 2007 Nov 15;145(4):393-8.

DNA methylation regulates tissue-specific expression of Shank3. Beri S, Tonna N, Menozzi G, Bonaglia MC, Sala C, Giorda R.  J Neurochem. 2007 Apr 10.

Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome. Tabolacci E, Zollino M, Lecce R, Sangiorgi E, Gurrieri F, Leuzzi V, Opitz JM, Neri G. Clin Dysmorphol. 2005 Jul;14(3):127-132.

Further delineation of the 22q13 deletion syndrome. Lindquist SG, Kirchhoff M, Lundsteen C, Pedersen W, Erichsen G, Kristensen K, Lillquist K, Smedegaard HH, Skov L, Tommerup N, Brondum-Nielsen K. Clin Dysmorphol. 2005 Apr;14(2):55-60.

*22q13 deletion syndrome with central diabetes insipidus: a previously unreported association. Barakat, A. J. et al, Clinical Dysmorphology, Vol 13, No. 3, 2004.

*Terminal 22q Deletion Syndrome: A newly recognized cause of speech and language disability in the autism spectrum. Mannin, M. A. et al. Pediatrics, Vol. 114 No. 2, August 2004.

*22q13 Deletion Syndrome: An update and review for the Primary Pediatrician. Phelan, MC et al, Clinical Pediatrics, Jan/Feb 2004, 43, 1, p 43-53

*Perinatal findings and molecular cytogenetic analysis of trisomy 16q and 22q13.3 deletion. Chen, C, et al. Prenatal Diagnosis. 2003. 23: 504-508.

*Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: Cytogenetic, molecular, and clinical analyses of 32 new observations. Luciani, JJ, et al, J Med Genet, 2003, 40:690-696

*Molecular characterisation of the 22q13 deletion syndrome supports the role of haplinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms. Wilson, H.L. et al J Med Genet. 40(8):575-84. 2003.

*FISH-mapping of a 100-kb terminal 22q13 deletion, Anderlid, Britt-Marie et all, Hum Genet 2002 110: 439-443.

*Prenatal diagnosis of mosaicism for deletion 22q13.3, Phelan, MC, et al, Prenatal Diagnosis 2001, 21: 1100

*22q13 Deletion Syndrome, Phelan, MC, et al, Am J Med Genet 101:91-99, 2001.

*Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q23.13) is associated with the 22q13.3 Deletion Syndrome. Bonaglia, MC, et al, Am J Med Genet, 69: 261-268, 2001.

*Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH       Goizet C, et al   Am J Med Genet 2000 Dec 4;96(6);839-44

A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome. de vries, B.B., et al. Clin Genet 58(6):483-7, 2000.

*Genetic evaluation of pervasive development disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype. Clin Genet 2000 57:103-109
Prasad C et al

*Prenatal diagnosis of mosaicism for a del(22)(q13), Riegel M, Baumer A, Wisser J, Acherman J, Schinzel A, Prenat Diagn 2000; 20:76-79

Cryptic Subtelomeric Translocations in the 22q13 Deletion Syndrome. J Med Genet 2000 Jan;37(1):58-61. Praphanphoj V, et al

*Clinical, Cytogenetic and Molecular Characterization of Seven Patients with Deletions of Chromosome 22q13.3. Nancy J.Nesslinger, Jerome L. Gorski, Thaddeus W. Kurczynski, Stuart K. Shapira, Jaqueline Sieel-Bartelt, Jan P. Dumanski, Robert F. Cullen, Jr. Beatrice N. French, and Heather E. McDermid   Am. J. Med. Genet. 54:464-472, 1994.

*The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3. Slavotinek A, Maher E, Gregory P, Rowlandson P, Huson SM
J Med Genet 1997 Oct;34(10):857-61

Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients. Doheny KF, McDermid HE, Harum K, Thomas GH, Raymond GV J Med Genet 1997 Aug;34(8):640-4

Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation. Wong AC, Ning Y, Flint J, Clark K, Dumanski JP, Ledbetter DH, McDermid HE Am J Hum Genet 1997 Jan;60(1):113-20

Cytogenetic, biochemical, and molecular analyses of a 22q12 deletion. Phelan, MC, et al. Am H Med Genet 43(5):872-6, 1992.

Fragile 22q13 segregating in a family. Webb T, Thanke A. Clin Genet. 26(2):125-8, 1984.

HEAD OFFICE - for ALL inquiries: Chromosome 22 Central, c/o Stephanie St-Pierre, 338 Spruce Street North, Timmins, Ontario, Canada P4N 6N5  tel: (705) 268-3099, EMAIL:  steph.stpierre@c22c.org or steph.stpierre@gmail.com

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