CHROMOSOME 22 CENTRAL 
SUPPORT FOR ALL CHROMOSOME 22 RELATED DISORDERS 

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• Chromosome 22 Central

• 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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DUPLICATION 22q SYNDROME/ MICRODUPLICATION 22q

Until recently, there has been little in the way of written material available on this disorder, as it is fairly newly reported in the literature.

Link - In November 2003, researchers at the Mayo Clinic discovered the disorder.

The clinical phenotype is reported to be quite variable and while it overlaps some of the features of 22q11 deletion, does have some unique features of its own. For full details on this disorder, please visit these full-text links for downloadable copies of:

Microduplication and triplication of 22q11.2: a highly variable syndrome. Yobb TM, Somerville MJ, Willatt L, Firth HV, Harrison K, MacKenzie J, Gallo N, Morrow BE, Shaffer LG, Babcock M, Chernos J, Bernier F, Sprysak K, Christiansen J, Haase S, Elyas B, Lilley M, Bamforth S, McDermid HE. Am J Hum Genet. 2005 May;76(5):865-76. Epub 2005 Mar 30  

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Ensenauer RE, Adeyinka A, Flynn HC, Michels VV, Lindor NM, Dawson DB, Thorland EC, Lorentz CP, Goldstein JL, McDonald MT, Smith WE, Simon-Fayard E, Alexander AA, Kulharya AS, Ketterling RP, Clark RD, Jalal SM. Am J Hum Genet. 2003 Nov;73(5):1027-40. 

Also visit:

OMIM ENTRY ON MICRODUPLICATION 22q11.2

Further References:

Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication. Yu S, Cox K, Friend K, Smith S, Buchheim R, Bain S, Liebelt J, Thompson E, Bratkovic D.  Clin Genet. 2007 Dec 12.

D-Transposition of the Great Arteries in a Case of Microduplication 22q11.2. Laitenberger G, Donner B, Gebauer J, Hoehn T. Pediatr Cardiol. 2007 Nov 28

Autistic disorder and 22q11.2 duplication. Mukaddes NM, and Herguner S. World J Biol Psychiatry. 2007.

1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features. Alberti A, Romano C, Falco M, Cali F, Schinocca P, Galesi O, Spalletta A, Di Benedetto D, Fichera M. Clin Genet. 2007 Feb;71(2):177-82.

The intrafamilial variability of the 22q11.2 microduplication encompsses a spectrum from minor cognitive deficits to severe congenital anomalies. de la Rochebrochard C, et al. American Journal of Medical Genetics Part A 140A: 1608-1613. 2006.

Microdeletion and Microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome. Brunet A., et al. American Journal of Medical Genetics Part A. 140A: 2426-2432. 2006.

22q11.2 Duplication Syndrome: Two new familial cases with some overlapping features with DiGeorge/Velocardiofacial Syndromes. Portnoi, M. et al. American Journal of Medical Genetics. 137A:47-51, 2005.

Incidence of microduplication 22q11.2 in patients referred for FISH testing for velocardiofacial and DiGeorge Syndromes. Cotter, PD, Nguyen H, Tung, G, and Rauen KA. European Journal of Human Genetics, 2005. 13: 1245-1246.

Duplication of the 22q11.2 region associated with congenital cardiac disease. Sparkes R, Chernos J, Dicke F. Cardiol Young. 2005 Apr;15(2):229-31.

A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome. Hassed, SJ, Hopcus-Niccum, D, Zhang L., Li, S, and Mulvihill, JJ. Clinical Genetics 2004: 65: 400-404.

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