Reference Articles

Alberti A, Romano C, Falco M, Cali F., Schinocca P, Galesi O, Spalletta A, Di Benedetto D, Fichera M. 2007. 1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features. Clinical Genetics. 71:177-182.

Brunet A, Gabau E, Perich RM, Valdesoiro L, Brun C, Caballin, MR, Guitart M. 2006. Microdeletion and Microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial Syndrome. American Journal of Medical Genetics, Part A 140A: 2426-2432.

Brunet A, Armengol L, Pelaez T, Guillamat R, Valles V, Gabau E, Estivill X, Guitart M. 2008. Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia. Behavioral and Brain Functions. 4:10.  FREE FULL TEXT ONLINE

Clark RA, Fang ZM, Diwan AD, Gilbert DL.2009. Tourette Syndrome and Klippel-Feil Anomaly in a child with chromosome 22q11 duplication. Case Reports in Medicine. Volume 2009. Article ID 361518.  FREE FULL TEXT ONLINE

Cotter PD, Nguyen H, Tung G, Rauen KA. 2005. Incidence of microduplication 22q11.2 in patients referred for FISh testing for velocardiofacial and DiGeorge syndromes. European Journal of Human Genetics. 13: 1245:1246. FREE FULL TEXT ONLINE

Courtens W, Schramme I, Laridon A. 2008. Microduplication 22q11.2: A benign polymorphism or a syndrome with a very large clinical variability and reduced penatrance? – Report of two families. American Journal of Medical Genetics, Part A 146A: 758-763.

de la Rochebrochard C, Joly-Helas G, Goldenberg A, Durand I, Laquerriere A, Ickowicz V, Saugier-Veber P, Eurin D, Moirot H, Diguet A, de Kergal F, Tiercin C, Mace B, Marpeau L, Frebourg T. 2006. The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies. American Journal of Medical Genetics Part A 140A: 1608-1613.

Descartes M, Franklin J, Diaz de Stahl T, Piotrowski A, Bruder CEG, Dumanski JP, Carroll AJ, Mikhail FM. 2008. Distal 22q11.2 microduplication encompassing the BCR gene. American Journal of Medical Genetics Part A. 146A: 3075-3081.

Ensenauer RE, Adeyinka A, Flynn HC, Michels VV, Lindor NM, Dawson DB, Torland EC, Lorentz CP, Goldstein JL, McDonald MT, Smith WE, Simon-Fayard E, Alexander AA, Kulharya AS, Ketterling RP, Clark RD, Jala SM. 2003. Microduplication 22q11.2, an emerging syndrome: Clinical, cytogenetic, and molecular analysis of thirteen patients. American Journal of Medical Genetics. 73:1027-1040. FREE FULL TEXT ONLINE 

Fernández L, Nevado J, Santos F, Heine-Suñer D, Martinez-Glez V, García-Miñaur S, Palomo R, Delicado A, Pajares IL, Palomares M, García-Guereta L, Valverde E, Hawkins F, Lapunzina P. 2009. A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review. BMC Med Genet. 2;10:48.  FULL TEXT FREE ONLINE

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

Laitenberger G, Donner B, Gebauer J, Hoehn T. 2007. D-Transposition of the great arteries in a case of microduplication 22q11.2. Pediatric Cardiology.

Lamb. A, Kumar R, Pellegrino JE, Chavez D, Morris T, Challinor P, Ravnan JB. 2004. Searching for patients with the 22q11.2 duplication syndrome: Confirmation that some patients have phenotypic overlap with DiGeorge/Velocardiofacial syndrome. American Journal of Human Genetics. 75:191.

Meins M, Burfeind P, Motsch S, Trappe R, Bartmus D, Langer S, Speicher MR, Mühlendyck H, Bartels I, Zoll B. 2003. Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome. Journal of Medical Genetics;40(5):e62.  FREE FULL TEXT ONLINE

Mosca AL, Callier P, Faivre L, Marle N, Mejean N, Thauvin-Robinet C, Masurel-Paulet A, Madinier N, Durand C, Couillaud G, Ragot S, Huet F, Teyssier JR, Mugneret F. 2009. Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication. American Journal of Medical Genetics Part A 149A:475-481.

Mukaddes NM, Hurguner S., 2007. Autistic disorder and 22q11.2 duplication. The World Journal of Biological Psychiatry. 8(2): 127-130

Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J, Chinault AC, Lupski JR, Cheung SW, Roeder E, Patel A, 2008. Microduplcations of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genetics in Medicine. 10:267-277.

Portnoi MF, Lebas F, Grunchy N, Ardalan A, Biran-Mucignat V, Malan V, Finkel L, Roger G, Ducrocq S, Gold F, Taillemite JL, Marlin S. 2005. 22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/Velocardiofacial syndromes. American Journal of Medical Genetics 137A: 47-51.

Portnoi MF. 2009. Microduplication 22q11.2: a new chromosomal syndrome. European Journal of Medical Genetics. 52(2-3):88-9.

Ramelli GP, Ferrarini A, Cattaneo C, Visconti P, Pescia G. 2008. Microduplication 22q11.2 in a child with autism spectrum disorder: clinical and genetic study. Developmental Medicine and Child Neurology, 50: 953-955.

Rosa RF, Zen PR, Ricachinevsky CP, Pilla CB, Pereira VL, Roman T, Varella-Garcia M, Paskulin GA. 2009.  22q11.2 duplication and congenital heart defects. Arq Bras Cardiol. 93(4):e67-9, e55-7. English, Portuguese, Spanish.  FREE FULL TEXT ARTICLE

Somerville MJ, Morrison W, Christiansen J, et al, 2004. Microduplication 22q11.2 causes isolated cognitive and/or behavioural disability. American Journal of Human Genetics. 75(Suppl):55.

Sparkes R, Chernos J, Dicke F. 2005. Duplication of the 22q11.2 region associated with congenital cardiac disease. Cardiology in the Young. 15:229-231.

Torres-Juan L, Rosell J, Morla M, Vidal-Pou C, García-Algas F, de la Fuente MA, Juan M, Tubau A, Bachiller D, Bernues M, Perez-Granero A, Govea N, Busquets X, Heine-Suñer D.2007. Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation. Eur J Hum Genet. 15(6):658-63.

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, Hasse Shelagh, Elyas B, Lilley M, Bamforth S, McDermid HE. 2005. Microduplication and triplication of 22q11.2: A highly variable syndrome. American Journal of Medical Genetics. 76: 865-876.  FREE FULL TEXT ONLINE

Yu S, Cox K, Friend K, Smith S, Buchheim R, Bain S, Liebelt J, Thompson E, Bratkovic D. 2008. Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familiar 1.5-Mb duplication. Clinical Genetics. 73:160-164.

Wentzel C, Fernstrom M, Ohrner Y, Anneren G, Thuresson A. 2008. Clinical variability of the 22q11.2 duplication syndrome. European Journal of Medical Genetics. 51: 501-510.