Microduplication 22q11.2: A new chromosomal syndrome

European Journal of Medical Genetics

Volumn 52, Issue 2-3, 2009, Pages 88-93

  Portnoï, Marie France ^a  

^a ARMAND TROUSSEAU HOSPITAL   (France)

Author keywords

22q11 Duplication syndrome; Chromosome 22; Genomic disorder; Microduplication syndrome

Indexed keywords

CHROMOSOME 22Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME MICRODUPLICATION; CHROMOSOME REARRANGEMENT; CLEFT PALATE; DEVELOPMENTAL DISORDER; DIAGNOSTIC ACCURACY; DIGEORGE SYNDROME; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE FREQUENCY; GENE MUTATION; GENE OVEREXPRESSION; GENETIC COMPLEMENTATION; GENETIC RECOMBINATION; GENETIC VARIABILITY; HAPLOTYPE; HEART DISEASE; HUMAN; LANGUAGE DISABILITY; LEARNING DISORDER; PALATOPHARYNGEAL INCOMPETENCE; PALPEBRAL FISSURE; PHENOTYPE; PHENOTYPIC VARIATION; REVIEW; TBX1 GENE; UROGENITAL TRACT MALFORMATION; VELOCARDIOFACIAL SYNDROME;

CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 22; GENE DUPLICATION; HUMANS; SYNDROME; T-BOX DOMAIN PROTEINS;

EID: 67349189512     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.02.008     Document Type: Review

References (38)

1. Aggarwal V.S., and Morrow B.E. Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome. Dev. Disabil. Res. Rev. 14 (2008) 19-25
2. Alberti A., Romano C., Falco M., Calì F., Schinocca P., Galesi O., Spalletta A., Di Benedetto D., and Fichera M. 1.5 Mb de novo 22q11.2 microduplication in a patient with cognitive deficits and dysmorphic facial features. Clin. Genet. 71 (2007) 1177-1182
3. S. Beiraghi, A. DeMarco, R. Lutz, K. Conway, K. Moller, Three new cases of duplication 22q11.2 with neuropsychological problems, learning disability and subtle dysmorphic features, in: ASHG 54th Annual meeting, Toronto (2004) Abst.662.
4. Ben-Shachar S., Ou Z., Shaw C.A., Belmont J.W., Patel M.S., Hummel M., Amato S., Tartaglia N., Berg J., Sutton V.R., Lalani S.R., Chinault A.C., Cheung S.W., Lupski J.R., and Patel A. 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am. J. Hum. Genet. 82 (2008) 214-221
5. Blennow E., Lagerstedt K., Malmgren H., Sahlén S., Schoumans J., and Anderlid B. Concurrent microdeletion and duplication of 22q11.2. Clin. Genet. 74 (2008) 61-67
6. Brunet A., Gabau E., Perich R.M., Valdesoiro L., Brun C., Caballín M.R., and Guitart M. Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome. Am. J. Med. Genet. A 140 (2006) 2426-2432
7. Cotter P.D., Nguyen H., Tung G., and Rauen K.A. Incidence of microduplication 22q11.2 in patients referred for FISH testing for velocardiofacial and DiGeorge syndromes. Eur. J. Hum. Genet. 13 (2005) 1245-1246
8. Courtens W., Schramme I., and Laridon A. Microduplication 22q11.2: a benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?-Report of two families. Am. J. Med. Genet. A 146A (2008) 758-763
9. de La Rochebrochard C., Joly-Hélas G., Goldenberg A., Durand I., Laquerrière A., Ickowicz V., Saugier-Veber P., Eurin D., Moirot H., Diguet A., de Kergal F., Tiercin C., Mace B., Marpeau L., and Frebourg T. The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies. Am. J. Med. Genet. A 140 (2006) 1608-1613
10. Edelmann L., and Pandita R.K. RSK, Morrow BE. Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Am. J. Hum. Genet. 64 (1999) 1076-1086
11. Edelmann L., Pandita R.K., Spiteri E., Funke B., Goldberg R., Palanisamy N., Chaganti R.S.K., Magenis E., Shprintzen R.J., and Morrow B.E. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum. Mol. Genet. 8 (1999) 1157-1167
12. Emanuel B.S. Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements. Dev. Disabil. Res. Rev. 14 (2008) 11-18
13. Engels H., Brockschmidt A., Hoischen A., Landwehr C., Bosse K., Walldorf C., Toedt G., Radlwimmer B., Propping P., Lichter P., and Weber R.G. DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation. Neurology 68 (2007) 743-750
14. Ensenauer R.E., Adeyinka A., Flynn H.C., Michels V.V., Lindor N.M., Dawson D.B., Thorland E.C., Lorentz C.P., Goldstein J.L., McDonald M.T., Smith W.E., Simon-Fayard E., Alexander A.A., Kulharya A.S., Ketterling R.P., Clark R.D., and Jalal S.M. Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am. J. Hum. Genet. 73 (2003) 1027-1040
15. Hassed S.J., Hopcus-Niccum D., Zhang L., Li S., and Mulvihill J.J. A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome. Clin. Genet. 65 (2004) 400-404
16. S. Hassed, S.A. Vaz, J. Lee, J.J. Mulvihill, S. Li. Expanded phenotype of the 22q duplication syndrome, in: ASHG 54th Annual meeting, Toronto (2004) Abst.740.
17. Jalali G.R., Vorstman J.A., Errami A., Vijzelaar R., Biegel J., Shaikh T., and Emanuel B.S. Detailed analysis of 22q11.2 with a high density MLPA probe set. Hum. Mutat. 29 (2008) 433-440
18. Laitenberger G., Donner B., Gebauer J., and Hoehn T. D-transposition of the great arteries in a case of microduplication 22q11.2. Pediatr. Cardiol. 29 (2008) 1104-1106
19. A. Lamb, R. Kumar, J.E. Pellegrino, D. Chavez, T. Morris, P. Challinor, J.B. Ravnan, Searching for patients with the 22q11.2 duplication syndrome: confirmation that some patients have phenotypic overlap with DiGeorge/Velocardiofacial syndrome, in: ASHG 54th Annual meeting, Toronto (2004) Abst.974.
20. Liao J., Kochilas L., Nowotschin S., Arnold J.S., Aggarwal V.S., Epstein J.A., Brown M.C., Adams J., and Morrow B.E. Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. Hum. Mol. Genet. 13 (2004) 1577-1585
21. Lindsay E.A. Chromosomal microdeletions: dissecting del22q11 syndrome. Nat. Rev. Genet. 2 (2001) 858-868
22. Lu X., Shaw C.A., Patel A., Li J., Cooper M.L., Wells W.R., Sullivan C.M., Sahoo T., Yatsenko S.A., Bacino C.A., Stankiewicz P., Ou Z., Chinault A.C., Beaudet A.L., Lupski J.R., Cheung S.W., and Ward P.A. PLoS ONE 3 (2007) e327
23. McDermid H.E., and Morrow B.E. Genomic disorders on 22q11. Am. J. Hum. Genet. 70 (2002) 1077-1088
24. Menten B., Maas N., Thienpont B., Buysse K., Vandesompele J., Melotte C., de Ravel T., Van Vooren S., Balikova I., Backx L., Janssens S., De Paepe A., De Moor B., Moreau Y., Marynen P., Fryns J.P., Mortier G., Devriendt K., Speleman F., and Vermeesch J.R. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. J. Med. Genet. 43 (2006) 625-633
25. Mukaddes N.M., and Herguner S. Autistic disorder and 22q11.2 duplication. World J. Biol. Psychiatr. 8 (2007) 127-130
26. Ou Z., Berg J.S., Yonath H., Enciso V.B., Miller D.T., Picker J., Lenzi T., Keegan C.E., Sutton V.R., Belmont J., Chinault A.C., Lupski J.R., Cheung S.W., Roeder E., and Patel A. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet. Med. 4 (2008) 267-277
27. Paylor R., Glaser B., Mupo A., Ataliotis P., Spencer C., Sobotka A., Sparks C., Choi C.H., Oghalai J., Curran S., Murphy K.C., Monks S., Williams N., O'Donovan M.C., Owen M.J., Scambler P.J., and 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. 103 (2006) 7729-7734
28. Portnoï M.F., Lebas F., Gruchy N., Ardalan A., Biran-Mucignat V., Malan V., Finkel L., Roger G., Ducrocq S., Gold F., Taillemite J.L., and Marlin S. 22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes. Am. J. Med. Genet. A 137 (2005) 47-51
29. Shaikh T.H., Kurahashi H., Saitta S.C., O'Hare A.M., Hu P., Roe B.A., Driscoll D.A., McDonald-McGinn D.M., Zackai E.H., and Budarf M.L. Emanuel BS. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Hum. Mol. Genet. 9 (2000) 489-501
30. Shaikh T.H., Kurahashi H., and Emanuel B.S. Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review. Genet. Med. 3 (2001) 6-13
31. Torres-Juan Rosell J., Morla M., Vidal-Pou C., García-Algas F., de la Fuente M.A., Juan M., Tubau A., Bachiller D., Bernues M., Perez-Granero A., Govea N., Busquets X., and Heine-Suñer D. Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation. Eur. J. Hum. Genet. 15 (2007) 658-663
32. Turner D.J., Miretti M., Rajan D., Fiegler H., Carter N.P., Blayney M.L., Beck S., and Hurles M.E. Nat. Genet. 40 (2008) 90-95
33. Vorstman J.A., Jalali G.R., Rappaport E.F., Hacker A.M., Scott C., and Emanuel B.S. MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q. Hum. Mutat. 27 (2006) 814-821
34. Wentzel C., Fernström M., Ohrner Y., Annerén G., and Thuresson A.C. Clinical variability of the 22q11.2 duplication syndrome. Eur. J. Med. Genet. 51 (2008) 501-510
35. 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., and Matsuoka R. Role of TBX1 in human del22q11.2 syndrome. Lancet 362 (2003) 1366-1373
36. Yobb T.M., Somerville M.J., Willatt L., Firth H.V., Harrison K., MacKenzie J., Gallo N., Morrow B.E., Shaffer L.G., Babcock M., Chernos J., Bernier F., Sprysak K., Christiansen J., Haase S., Elyas B., Lilley M., Bamforth S., and McDermid H.E. Microduplication and triplication of 22q11.2: a highly variable syndrome. Am. J. Hum. Genet. 76 (2005) 865-876
37. Yu S., Cox K., Friend K., Smith S., Buchheim R., Bain S., Liebelt J., Thompson E., and Bratkovic D. Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication. Clin. Genet. 73 (2008) 160-164
38. Zweier C., Sticht H., Aydin-Yaylagül I., Campbell C.E., and Rauch A. Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Am. J. Hum. Genet. 80 (2007) 510-517