Sixteen new cases contributing to the characterization of patients with distal 22q11.2 microduplications

Molecular Syndromology

Volumn 1, Issue 5, 2011, Pages 246-254

  Wincent, J ^a   Bruno, D L ^b   Van Bon, B W M ^c   Bremer, A ^a   Stewart, H ^d   Bongers, E M H F ^c   Ockeloen, C W ^c   Willemsen, M H ^c   Keays, D A D ^e,f   Baird, G ^g,h   Newbury, D F ⁱ   Kleefstra, T ^c   Marcelis, C ^c   Kini, U ^d   Stark, Z ^b,j   Savarirayan, R ^b,j   Sheffield, L J ^b,j   Zuffardi, O ^k,l   Slater, H R ^b,j   De Vries, B B ^c   Knight, S J L ^e,i   Anderlid, B M ^a   Schoumans, J ^a,m   more..

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d CHURCHILL HOSPITAL   (United Kingdom)

^e NIHR OXFORD BIOMEDICAL RESEARCH CENTRE   (United Kingdom)

^f RESEARCH INSTITUTE OF MOLECULAR PATHOLOGY   (Austria)

^g GUY S HOSPITAL   (United Kingdom)

^h GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

ⁱ UNIVERSITY OF OXFORD   (United Kingdom)

^j UNIVERSITY OF MELBOURNE   (Australia)

^k UNIVERSITY OF PAVIA   (Italy)

^l C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^m LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

more..

Author keywords

22q11.2 distal duplication; Array comparative genomic hybridization; Behavioral disorders; Copy number variations; Developmental delay; Low copy repeats; SNP array; Speech delay

Indexed keywords

ANIMAL CELL; ARTICLE; BEHAVIOR DISORDER; CHROMOSOME 16P; CHROMOSOME 22Q; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DNA MICROARRAY; GENE DELETION; GENE DUPLICATION; GENE REARRANGEMENT; HUMAN; MAJOR CLINICAL STUDY; MICROARRAY ANALYSIS; MUSCLE HYPOTONIA; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SPEECH DISORDER;

EID: 79957479287     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000327982     Document Type: Article

References (52)

1. Alberti A, Romano C, Falco M, Cali F, Schinocca P, et al: 1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features. Clin Genet 71: 177-182 (2007). (Pubitemid 46189223)
2. Babcock M, Pavlicek A, Spiteri E, Kashork CD, Ioshikhes I, et al: Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alumediated recombination events during evolution. Genome Res 13: 2519-2532 (2003). (Pubitemid 37541141)
3. Barbaro M, Oscarson M, Schoumans J, Staaf J, Ivarsson SA, Wedell A: Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene. J Clin Endocrinol Metab 92: 3305-3313 (2007). (Pubitemid 47236406)
4. Ben-Shachar S, Ou Z, Shaw CA, Belmont JW, Patel MS, et al: 22q11.2 distal deletion: a recurrent genomic disorder distinct from Di- George syndrome and velocardiofacial syndrome. Am J Hum Genet 82: 214-221 (2008). (Pubitemid 351726089)
5. Botto LD, May K, Fernhoff PM, Correa A, Coleman K, et al: A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 112(1Pt1):101-107 (2003). (Pubitemid 36792936)
6. Bruno DL, Ganesamoorthy D, Schoumans J, Bankier A, Coman D, et al: Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice. J Med Genet 46: 123-131 (2009).
7. Coppinger J, McDonald-McGinn D, Zackai E, Shane K, Atkin JF, et al: Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region. Hum Mol Genet 18: 1377-1383 (2009).
8. Descartes M, Franklin J, de Stahl TD, Piotrowski A, Bruder CE, et al: Distal 22q11.2 microduplication encompassing the BCR gene. Am J Med Genet A 146A:3075-3081 (2008). (Pubitemid 352774649)
9. DiGeorge AM, Harley RD: The association of aniridia, Wilms's tumor, and genital abnormalities. Trans Am Ophthalmol Soc 63: 64-69 (1965).
10. Draaken M, Reutter H, Schramm C, Bartels E, Boemers TM, et al: Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy. Eur J Med Genet 53: 55-60 (2010).
11. Edelmann L, Spiteri E, McCain N, Goldberg R, Pandita RK, et al: A common breakpoint on 11q23 in carriers of the constitutional t(11; 22) translocation. Am J Hum Genet 65: 1608-1616 (1999a). (Pubitemid 30468673)
12. Edelmann L, Pandita RK, Morrow BE: Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Am J Hum Genet 64: 1076-1086 (1999b). (Pubitemid 30463039)
13. Edelmann L, Pandita RK, Spiteri E, Funke B, Goldberg R, et al: A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet 8: 1157-1167 (1999c). (Pubitemid 29328983)
14. Emanuel BS: Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements. Dev Disabil Res Rev 14: 11-18 (2008). (Pubitemid 351716518)
15. Endele S, Rosenberger G, Geider K, Popp B, Tamer C, et al: Mutation in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet 42: 1021- 1026 (2010).
16. Ensenauer RE, Adeyinka A, Flynn HC, Michels VV, Lindor NM, et al: Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet 73: 1027-1040 (2003). (Pubitemid 37414217)
17. Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, et al: A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet 42: 203- 209 (2010).
18. Guanti G: The aetiology of the cat eye syndrome reconsidered. J Med Genet 18: 108-118 (1981). (Pubitemid 11112227)
19. Hassed SJ, Hopcus-Niccum D, Zhang L, Li S, Mulvihill JJ: A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome. Clin Genet 65: 400-404 (2004). (Pubitemid 38659710)
20. Itsara A, Cooper GM, Baker C, Girirajan S, Li J, et al: Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 84: 148-161 (2009).
21. Leana-Cox J, Pangkanon S, Eanet KR, Curtin MS, Wulfsberg EA: Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: report of five families with a review of the literature. Am J Med Genet 65: 309-316 (1996).
22. Lundin J, Söderhäll C, Lundén L, Hammarsjö A, White I, et al: 22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment. Eur J Med Genet 53: 61-65 (2010).
23. Matsuoka R, Kimura M, Scambler PJ, Morrow BE, Imamura S, et al: Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome. Hum Genet 103: 70-80 (1998). (Pubitemid 28398389)
24. McDermid HE, Morrow BE: Genomic disorders on 22q11. Am J Hum Genet 70: 1077-1088 (2002). (Pubitemid 34450561)
25. McDonald-McGinn DM, LaRossa D, Goldmuntz E, Sullivan K, Eicher P, et al: The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genet Test 1: 99-108 (1997). (Pubitemid 127528777)
26. McDonald-McGinn DM, Tonnesen MK, Laufer- Cahana A, Finucane B, Driscoll DA, et al: Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! Genet Med 3: 23-29 (2001).
27. Mikhail FM, Descartes M, Piotrowski A, Anders - son R, Diaz de Stahl T, et al: A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene. Am J Med Genet A 143A:2178-2184 (2007).
28. Morrow B, Goldberg R, Carlson C, Das Gupta R, Sirotkin H, et al: Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome. Am J Hum Genet 56: 1391-1403 (1995).
29. Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, et al: Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med 10: 267-277 (2008). (Pubitemid 351544129)
30. Portnoi MF: Microduplication 22q11.2: a new chromosomal syndrome. Eur J Med Genet 52: 88-93 (2009).
31. Portnoi MF, Lebas F, Gruchy N, Ardalan A, Biran- Mucignat V, et al: 22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes. Am J Med Genet A 137: 47-51 (2005). (Pubitemid 41105534)
32. Rauch A, Pfeiffer RA, Leipold G, Singer H, Tigges M, Hofbeck M: A novel 22q11.2 microdeletion in DiGeorge syndrome. Am J Hum Genet 64: 659-666 (1999).
33. Rauch A, Zink S, Zweier C, Thiel CT, Koch A, et al: Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2. J Med Genet 42: 871-876 (2005). (Pubitemid 41598197)
34. Reutlinger C, Helbig I, Gawelcyk B, Subero JI, Tönnies H, et al: Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region. Epilepsia 51: 1870-1873 (2010).
35. Robin NH, Shprintzen RJ: Defining the clinical spectrum of deletion 22q11.2. J Pediatr 147: 90-96 (2005). (Pubitemid 40981151)
36. Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, et al: Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 34: 798-804 (1997). (Pubitemid 27417432)
37. Saitta SC, McGrath JM, Mensch H, Shaikh TH, Zackai EH, Emanuel BS: A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects. Am J Hum Genet 65: 562-566 (1999). (Pubitemid 30463014)
38. Scambler PJ, Kelly D, Lindsay E, Williamson R, Goldberg R, et al: Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Lancet 339: 1138-1139 (1992).
39. Shaffer LG, Lupski JR: Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu Rev Genet 34: 297-329 (2000). (Pubitemid 32065924)
40. Shaikh TH, Kurahashi H, Saitta SC, O'Hare AM, Hu P, et al: Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Hum Mol Genet 9: 489-501 (2000). (Pubitemid 30154007)
41. Shaikh TH, O'Connor RJ, Pierpont ME, Mc- Grath J, Hacker AM, et al: Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms. Genome Res 17: 482-491 (2007). (Pubitemid 46556452)
42. Shimojima K, Imai K, Yamamoto T: A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity and epilepsy. Am J Med Genet A 152A:2820-2826 (2010).
43. Shprintzen RJ, Goldberg RB, Lewin ML, Sidoti EJ, Berkman MD, et al: A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio- facial syndrome. Cleft Palate J 15: 56-62 (1978). (Pubitemid 8271057)
44. Shprintzen RJ, Goldberg RB, Young D, Wolford L: The velo-cardio-facial syndrome: a clinical and genetic analysis. Pediatrics 67: 167-172 (1981). (Pubitemid 11184016)
45. Sparkes R, Chernos J, Dicke F: Duplication of the 22q11.2 region associated with congenital cardiac disease. Cardiol Young 15: 229-231 (2005). (Pubitemid 41388088)
46. Vissers LE, de Ligt J, Gilissen C, Janssen I, Steehouwer M, et al: A de novo paradigm for mental retardation. Nat Genet 42: 1109-1112 (2010).
47. Wentzel C, Fernstrom M, Ohrner Y, Anneren G, Thuresson AC: Clinical variability of the 22q11.2 duplication syndrome. Eur J Med Genet 51: 501-510 (2008).
48. Wincent J, Anderlid BM, Lagerberg M, Nordenskjold M, Schoumans J: High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting. Clin Genet 79: 147-157 (2011).
49. Yamagishi H: The 22q11.2 deletion syndrome. Keio J Med 51: 77-88 (2002).
50. Yobb TM, Somerville MJ, Willatt L, Firth HV, Harrison K, et al: Microduplication and triplication of 22q11.2: a highly variable syndrome. Am J Hum Genet 76: 865-876 (2005). (Pubitemid 40563107)
51. Yu S, Cox K, Friend K, Smith S, Buchheim R, et al: Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication. Clin Genet 73: 160-164 (2008).
52. Zackai EH, Emanuel BS: Site-specific reciprocal translocation, t(11; 22) (q23;q11), in several unrelated families with 3: 1 meiotic disjunction. Am J Med Genet 7: 507-521 (1980). (Pubitemid 11205744)