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European Journal of Pediatrics

, Volume 172, Issue 7, pp 927–945 | Cite as

Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature

  • Fabíola P. Monteiro
  • Társis P. Vieira
  • Ilária C. Sgardioli
  • Miriam C. Molck
  • Ana Paula Damiano
  • Josiane Souza
  • Isabella L. Monlleó
  • Marshall I. B. Fontes
  • Agnes C. Fett-Conte
  • Têmis M. Félix
  • Gabriela F. Leal
  • Erlane M.Ribeiro
  • Claudio E. M. Banzato
  • Clarissa de R. Dantas
  • Iscia Lopes-Cendes
  • Vera Lúcia Gil-da-Silva-LopesEmail author
Original Article

Abstract

The 22q11.2 deletion is the most frequent interstitial deletion in humans and presents a wide phenotypic spectrum, with over 180 clinical manifestations described. Distinct studies have detected frequencies of the deletion ranging from 0 % to 75 %, depending on the studied population and selection criteria adopted. Due to the lack of consensus in this matter, several studies have been conducted aiming to define which patients would be eligible for screening; however, the issue is still up for debate. In order to contribute to the delineation of possible clinical and dysmorphologic guidelines to optimize decision making in the clinical setting, 194 individuals with variable features of the 22q11.2 deletion syndromes (22q11.2DS) were evaluated. Group I, clinical suspicion of 22q11.2DS with palatal anomalies; Group II, clinical suspicion without palatal anomalies; Group III, cardiac malformations associated with the 22q11.2DS; and Group IV, juvenile-onset schizophrenia. Multiplex ligation-dependent probe amplification was used for screening the 22q11.2 deletion, which was detected in 45 patients (23.2 %), distributed as such: Group I, 35/101 (34.7 %); Group II, 4/18 (22.2 %); Group III, 6/52 (11.5 %); and Group IV, 0/23 (0 %). Clinical data were analyzed by frequency distribution and statistically. Based on the present results and on the review of the literature, we propose a set of guidelines for screening patients with distinct manifestations of the 22q11.2DS in order to maximize resources. In addition, we report the dysmorphic features which we found to be statistically correlated with the presence of the 22q11.2DS.

Keywords

Cleft palate Congenital cardiopathy Juvenile-onset schizophrenia Clinical guidelines Dysmorphology Personalized medicine Cost-effectiveness 

Notes

Acknowledgments

This study was supported by FAPESP–Fundação de Amparo à Pesquisa do Estado de São Paulo (2008/50421-4 and 2009/ 08756–1) and CNPq-Conselho Nacional de Desenvolvimento Científico e Tecnológico (149600/2010-0). VLGSL is supported by CNPq (304455/2012-1).

The authors are deeply indebted to the families for their cooperation.

We like to thank the following clinical geneticists for participating in the evaluation of patients and also sending clinical data for the study: Dr. Antonia P. Marques-de-Faria, Dr. Carlos E. Steiner, Dr. Carolina A. Moreno, Dr. Chong AE Kim, Dr. Eny M. G. Bertollo, Dr. Rômulo Moumbach, Dr. Ruy Pires de Oliveira Sobrinho, and Dr. Pricila Bernardi.

References

  1. 1.
    Adachi M, Tachibana K, Masuno M, Makita Y, Maesaka H, Okada T, Hizukuri K, Imaizumi K, Kuroki Y, Kurahashi H, Suwa S (1998) Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion. Eur J Pediatr 157(1):34–38PubMedCrossRefGoogle Scholar
  2. 2.
    Agergaard P, Hebert A, Sørensen KM, Ostergaard JR, Olesen C (2011) Can clinical assessment detect 22q11.2 deletions in patients with cardiac malformations? A review. Eur J Med Genet 54(1):3–8PubMedCrossRefGoogle Scholar
  3. 3.
    Amati F, Conti E, Novelli A, Bengala M, Diglio MC, Marino B, Giannotti A, Gabrielli O, Novelli G, Dallapiccola B (1999) Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome. Eur J Hum Genet 7(8):903–909PubMedCrossRefGoogle Scholar
  4. 4.
    Amati F, Mari A, Digilio MC, Mingarelli R, Marino B, Giannotti A, Novelli G, Dallapiccola B (1995) 22q11 deletions in isolated and syndromic patients with Tetralogy of Fallot. Hum Genet 95(5):479–482PubMedCrossRefGoogle Scholar
  5. 5.
    Arinami T, Ohtsuki T, Takase K, Shimizu H, Yoshikawa T, Horigome H, Nakayama J, Toru M (2001) Screening for 22q11 deletions in a schizophrenia population. Schizophr Res 52(3):167–170PubMedCrossRefGoogle Scholar
  6. 6.
    Bartsch O, Nemecková M, Kocárek E, Wagner A, Puchmajerová A, Poppe M, Ounap K, Goetz P (2003) DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion. Am J Med Genet A 117A(1):1–5PubMedCrossRefGoogle Scholar
  7. 7.
    Bashir MA, Hodgkinson PD, Montgomery T, Splitt M (2008) 22q11 Deletion in children with cleft lip and palate—is routine screening justified? J Plast Reconstr Aesthet Surg 61(2):130–132PubMedCrossRefGoogle Scholar
  8. 8.
    Bassett AS, Chow EW (2008) Schizophrenia and 22q11.2 deletion syndrome. Curr Psychiatry Rep 10(2):148–157PubMedCrossRefGoogle Scholar
  9. 9.
    Bassett AS, Hodgkinson K, Chow EW, Correia S, Scutt LE, Weksberg R (1998) 22q11 deletion syndrome in adults with schizophrenia. Am J Med Genet 81(4):328–337PubMedCrossRefGoogle Scholar
  10. 10.
    Baumer A, Dutly F, Balmer D, Riegel M, Tükel T, Krajewska-Walasek M, Schinzel AA (1998) High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions. Hum Mol Genet 7(5):887–894PubMedCrossRefGoogle Scholar
  11. 11.
    Beauchesne LM, Warnes CA, Connolly HM, Ammash NM, Grogan M, Jalal SM, Michels VV (2005) Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies. J Am Coll Cardiol 45(4):595–598PubMedCrossRefGoogle Scholar
  12. 12.
    Boorman JG, Varma S, Ogilvie CM (2001) Velopharyngeal incompetence and chromosome 22q11 deletion. Lancet 357(9258):774PubMedCrossRefGoogle Scholar
  13. 13.
    Borgmann S, Luhmer I, Arslan-Kirchner M, Kallfelz HC, Schmidtke J (1999) A search for chromosome 22q11.2 deletions in a series of 176 consecutively catheterized patients with congenital heart disease: no evidence for deletions in non-syndromic patients. Eur J Pediatr 158(12):958–963PubMedCrossRefGoogle Scholar
  14. 14.
    Botto LD et al (2003) A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 112(1 Pt 1):101–107PubMedCrossRefGoogle Scholar
  15. 15.
    Brunet A, Gabau E, Perich RM, Valdesoiro L, Brun C, Caballín MR, Guitart M (2006) Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/velocardiofacial syndrome. Am J Med Genet A 140(22):2426–2432PubMedGoogle Scholar
  16. 16.
    Carlson C, Sirotkin H, Pandita R, Goldberg R, McKie J, Wadey R, Patanjali SR, Weissman SM, Anyane-Yeboa K, Warburton D, Scambler P, Shprintzen R, Kucherlapati R, Morrow BE (1997) Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet 61(3):620–629PubMedCrossRefGoogle Scholar
  17. 17.
    Carotti A, Digilio MC, Piacentini G, Saffirio C, Di Donato RM, Marino B (2008) Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome. Dev Disabil Res Rev 14(1):35–42PubMedCrossRefGoogle Scholar
  18. 18.
    Cayler GG (1969) Cardiofacial syndrome. Congenital heart disease and facial weakness, a hitherto unrecognized association. Arch Dis Child 44:69–75PubMedCrossRefGoogle Scholar
  19. 19.
    Chessa M, Butera G, Bonhoeffer P, Iserin L, Kachaner J, Lyonnet S, Munnich A, Sidi D, Bonnet D (1998) Relation of genotype 22q11 deletion to phenotype of pulmonary vessels in Tetralogy of Fallot and pulmonary atresia-ventricular septal defect. Heart 79(2):186–190PubMedGoogle Scholar
  20. 20.
    Cuneo BF (2001) 22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes. Curr Opin Pediatr 13(5):465–472PubMedCrossRefGoogle Scholar
  21. 21.
    Derbent M, Yilmaz Z, Baltaci V, Saygili A, Varan B, Tokel K (2003) Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects. Am J Med Genet A 116A(2):129–135PubMedCrossRefGoogle Scholar
  22. 22.
    DiGeorge AM (1968) Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypoparathyroidism. Birth Defects Orig Ser Art IV(1):116–121Google Scholar
  23. 23.
    Drew LJ, Crabtree GW, Markx S, Stark KL, Chaverneff F, Xu B, Mukai J, Fenelon K, Hsu PK, Gogos JA, Karayiorgou M (2011) The 22q11.2 microdeletion: fifteen years of insights into the genetic and neural complexity of psychiatric disorders. Int J Dev Neurosci 29(3):259–281PubMedCrossRefGoogle Scholar
  24. 24.
    Driscoll DA, Salvin J, Sellinger B, Budarf ML, McDonald-McGinn DM, Zackai EH, Emanuel BS (1993) Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J Med Genet 30(10):813–817PubMedCrossRefGoogle Scholar
  25. 25.
    Edelmann L, Pandita RK, Spiteri E, Funke B, Goldberg R, Palanisamy N, Chaganti RS, Magenis E, Shprintzen RJ, Morrow BE (1999) A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet 8(7):1157–1167PubMedCrossRefGoogle Scholar
  26. 26.
    Fernandez L, Lapunzina P, Arjona D, Lopez Pajares I, Garcia-Guereta L, Elorza D, Burgueros M, De Torres ML, Mori MA, Palomares M, Garcia-Alix A, Delicado A (2005) Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome. Clin Genet 68:373–378PubMedCrossRefGoogle Scholar
  27. 27.
    Fokstuen S, Arbenz U, Artan S, Dutly F, Bauersfeld U, Brecevic L, Fasnacht M, Röthlisberger B, Schinzel A (1998) 22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin. Clin Genet 53(1):63–69PubMedCrossRefGoogle Scholar
  28. 28.
    Giannotti A, Digilio MC, Marino B, Mingarelli R, Dallapiccola B (1994) Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype. Am J Med Genet 53:303–304PubMedCrossRefGoogle Scholar
  29. 29.
    Gioli-Pereira L, Pereira AC, Bergara D, Mesquita S, Lopes AA, Krieger JE (2008) Frequency of 22q11.2 microdeletion in sporadic non-syndromic Tetralogy of Fallot cases. Int J Cardiol 126(3):374–378PubMedCrossRefGoogle Scholar
  30. 30.
    Goldmuntz E, Clark BJ, Mitchell LE, Jawad AF, Cuneo BF, Reed L, McDonald-McGinn D, Chien P, Feuer J, Zackai EH, Emanuel BS, Driscoll DA (1998) Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol 32(2):492–498PubMedCrossRefGoogle Scholar
  31. 31.
    Goodship J, Cross I, LiLing J, Wren C (1998) A population study of chromosome 22q11 deletions in infancy. Arch Dis Child 79(4):348–351PubMedCrossRefGoogle Scholar
  32. 32.
    Gothelf D, Frisch A, Munitz H, Rockah R, Aviram A, Mozes T, Birger M, Weizman A, Frydman M (1997) Velocardiofacial manifestations and microdeletions in schizophrenic inpatients. Am J Med Genet 72(4):455–461PubMedCrossRefGoogle Scholar
  33. 33.
    Halder A, Jain M, Chaudhary I, Kabra M (2010) Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India. BMC Med Genet 11:101PubMedCrossRefGoogle Scholar
  34. 34.
    Hay BN (2007) Deletion 22q11: spectrum of associated disorders. Semin Pediatr Neurol 14(3):136–139PubMedCrossRefGoogle Scholar
  35. 35.
    Hofbeck M, Rauch A, Buheitel G, Leipold G, von der Emde J, Pfeiffer R, Singer H (1998) Monosomy 22q11 in patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries. Heart 79(2):180–185PubMedGoogle Scholar
  36. 36.
    Horowitz A, Shifman S, Rivlin N, Pisanté A, Darvasi A (2005) A survey of the 22q11 microdeletion in a large cohort of schizophrenia patients. Schizophr Res 73(2–3):263–267PubMedCrossRefGoogle Scholar
  37. 37.
    Insel TR (2010) Rethinking schizophrenia. Nature 468(7321):187–193PubMedCrossRefGoogle Scholar
  38. 38.
    Iserin L, de Lonlay P, Viot G, Sidi D, Kachaner J, Munnich A, Lyonnet S, Vekemans M, Bonnet D (1998) Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies. Eur J Pediatr 157(11):881–884PubMedCrossRefGoogle Scholar
  39. 39.
    Jalali GR, Vorstman JA, Errami A, Vijzelaar R, Biegel J, Shaikh T, Emanuel BS (2008) Detailed analysis of 22q11.2 with a high density MLPA probe set. Hum Mutat 29(3):433–440PubMedCrossRefGoogle Scholar
  40. 40.
    Karayiorgou M, Gogos JA (2004) The molecular genetics of the 22q11-associated schizophrenia. Brain Res Mol Brain Res 132(2):95–104PubMedCrossRefGoogle Scholar
  41. 41.
    Karayiorgou M, Morris MA, Morrow B, Shprintzen RJ, Goldberg R, Borrow J, Gos A, Nestadt G, Wolyniec PS, Lasseter VK et al (1995) Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11. Proc Natl Acad Sci U S A 92(17):7612–7616PubMedCrossRefGoogle Scholar
  42. 42.
    Khositseth A, Tocharoentanaphol C, Khowsathit P, Ruangdaraganon N (2005) Chromosome 22q11 deletions in patients with conotruncal heart defects. Pediatr Cardiol 26(5):570–573PubMedCrossRefGoogle Scholar
  43. 43.
    Kitsiou-Tzeli S et al (2004) Detection of 22q11.2 deletion among 139 patients with Di George/velocardiofacial syndrome features. In Vivo 18(5):603–608PubMedGoogle Scholar
  44. 44.
    Kobrynski LJ, Sullivan KE (2007) Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet 370:1443–1452PubMedCrossRefGoogle Scholar
  45. 45.
    Maeda J, Yamagishi H, Matsuoka R, Ishihara J, Tokumura M, Fukushima H, Ueda H, Takahashi E, Yoshiba S, Kojima Y (2000) Frequent association of 22q11.2 deletion with Tetralogy of Fallot. Am J Med Genet 92(4):269–272PubMedCrossRefGoogle Scholar
  46. 46.
    Matsuoka R, Takao A, Kimura M, Imamura S, Kondo C, Joh-o K, Ikeda K, Nishibatake M, Ando M, Momma K (1994) Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2. Am J Med Genet 53:285–289PubMedCrossRefGoogle Scholar
  47. 47.
    McDonald-McGinn DM, Driscoll DA, Bason L, Christensen K, Lynch D, Sullivan K, Canning D, Zavod W, Quinn N, Rome J (1995) Autosomal dominant “Opitz” GBBB syndrome due to a 22q11.2 deletion. Am J Med Genet 59(1):103–113PubMedCrossRefGoogle Scholar
  48. 48.
    McDonald-McGinn DM, Kirschner R, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Solot C, Wang P, Jacobs I, Handler S, Knightly C, Heher K, Wilson M, Ming JE, Grace K, Driscoll D, Pasquariello P, Randall P, Larossa D, Emanuel BS, Zackai EH (1999) The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns 10:11–24PubMedGoogle Scholar
  49. 49.
    McDonald-McGinn DM, LaRossa D, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Wang P, Solot C, Schultz P, Lynch D, Bingham P, Keenan G, Weinzimer S, Ming JE, Driscoll D, Clark BJ 3rd, Markowitz R, Cohen A, Moshang T, Pasquariello P, Randall P, Emanuel BS, Zackai EH (1997) The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genet Test 1(2):99–108PubMedCrossRefGoogle Scholar
  50. 50.
    McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, Finucane B, Driscoll DA, Emanuel BS, Zackai EH (2001) Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! Genet Med 3:23–29PubMedCrossRefGoogle Scholar
  51. 51.
    McElhinney DB, Driscoll DA, Levin ER, Jawad AF, Emanuel BS, Goldmuntz E (2003) Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies. Pediatrics 112(6 Pt 1):e472PubMedCrossRefGoogle Scholar
  52. 52.
    McQuade L, Christodoulou J, Budarf M, Sachdev R, Wilson M, Emanuel B, Colley A (1999) Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR). Am J Med Genet 86(1):27–33PubMedCrossRefGoogle Scholar
  53. 53.
    Mingarelli R et al (1996) The search for hemizygosity at 22qll in patients with isolated cleft palate. J Craniofac Genet Dev Biol 16(2):118–121PubMedGoogle Scholar
  54. 54.
    Momma K (2010) Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome. Am J Cardiol 105(11):1617–1624PubMedCrossRefGoogle Scholar
  55. 55.
    Momma K, Kondo C, Matsuoka R (1996) Tetralogy of Fallot with pulmonary atresia associated with chromosome 22q11 deletion. J Am Coll Cardiol 27(1):198–202PubMedCrossRefGoogle Scholar
  56. 56.
    Momma K, Matsuoka R, Takao A (1999) Aortic arch anomalies associated with chromosome 22q11 deletion (CATCH 22). Pediatr Cardiol 20(2):97–102PubMedCrossRefGoogle Scholar
  57. 57.
    Oh AK, Workman LA, Wong GB (2007) Clinical correlation of chromosome 22q11.2 fluorescent in situ hybridization analysis and velocardiofacial syndrome. Cleft Palate Craniofac J 44(1):62–66PubMedCrossRefGoogle Scholar
  58. 58.
    Oskarsdóttir S, Persson C, Eriksson BO, Fasth A (2005) Presenting phenotype in 100 children with the 22q11 deletion syndrome. Eur J Pediatr 164(3):146–153PubMedCrossRefGoogle Scholar
  59. 59.
    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) Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med 10(4):267–277PubMedCrossRefGoogle Scholar
  60. 60.
    Perez E, Sullivan KE (2002) Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes). Curr Opin Pediatr 14(6):678–683PubMedCrossRefGoogle Scholar
  61. 61.
    Portnoï MF (2009) Microduplication 22q11.2: a new chromosomal syndrome. Eur J Med Genet 52(2–3):88–93PubMedCrossRefGoogle Scholar
  62. 62.
    Reish O, Finkelstein Y, Mesterman R, Nachmani A, Wolach B, Fejgin M, Amiel A (2003) Is isolated palatal anomaly an indication to screen for 22q11 region deletion? Cleft Palate Craniofac J 40(2):176–179PubMedCrossRefGoogle Scholar
  63. 63.
    Ruiter EM, Bongers EM, Smeets DF, Kuijpers-Jagtman AM, Hamel BC (2003) No justification of routine screening for 22q11 deletions in patients with overt cleft palate. Clin Genet 64(3):216–219PubMedCrossRefGoogle Scholar
  64. 64.
    Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brøndum-Nielsen K, Scambler PJ et al (1997) Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 34(10):798–804PubMedCrossRefGoogle Scholar
  65. 65.
    Sandrin-Garcia P, Abramides DV, Martelli LR, Ramos ES, Richieri-Costa A, Passos GA (2007) Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2. Mol Cell Biochem 303(1–2):9–17PubMedCrossRefGoogle Scholar
  66. 66.
    Sandrin-Garcia P, Richieri-Costa A, Tajara EH, Carvalho-Salles AB, Fett-Conte AC (2007) Fluorescence in situ hybridization (FISH) screening for the 22q11.2 deletion in patients with clinical features of velocardiofacial syndrome but without cardiac anomalies. Genet Mol Biol 30(1):21–24CrossRefGoogle Scholar
  67. 67.
    Scambler PJ, Carey AH, Wyse RK, Roach S, Dumanski JP, Nordenskjold M, Williamson R (1991) Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. Genomics 10(1):201–206PubMedCrossRefGoogle Scholar
  68. 68.
    Shprintzen RJ, Goldberg RB, Lewin ML, Sidoti EJ, Berkman MD, Argamaso RV, Young D (1978) A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate Craniofac J 15:56–62Google Scholar
  69. 69.
    Shprintzen RJ, Higgins AM, Antshel K, Fremont W, Roizen N, Kates W (2005) Velo-cardio-facial syndrome. Curr Opin Pediatr 17(6):725–730PubMedCrossRefGoogle Scholar
  70. 70.
    Simioni M, Vieira TP, Sgardioli IC, Freitas EL, Rosenberg C, Maurer-Morelli CV, Lopes-Cendes I, Fett-Conte AC, Gil-da-Silva-Lopes VL (2012) Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1characterized by high resolution arrays in a boy with congenital malformations and aniridia. Am J Med Genet A 158(11):2905–2910Google Scholar
  71. 71.
    Sivertsen A, Lie RT, Wilcox AJ, Abyholm F, Vindenes H, Haukanes BI, Houge G (2007) Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate. Am J Med Genet A 143(2):129–134PubMedGoogle Scholar
  72. 72.
    Sporn A, Addington A, Reiss AL et al (2004) 22q11 deletion syndrome in childhood onset schizophrenia: an update. Mol Psychiatry 9:225–226PubMedCrossRefGoogle Scholar
  73. 73.
    Sugama S, Namihira T, Matsuoka R, Taira N, Eto Y, Maekawa K (1999) Psychiatric inpatients and chromosome deletions within 22q11.2. J Neurol Neurosurg Psychiatry 67(6):803–806PubMedCrossRefGoogle Scholar
  74. 74.
    Swillen A, Devriendt K, Legius E, Eyskens B, Dumoulin M, Gewillig M, Fryns JP (1997) Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. J Med Genet 34(6):453–458PubMedCrossRefGoogle Scholar
  75. 75.
    Swillen A, Vogels A, Devriendt K, Fryns JP (2000) Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications. Am J Med Genet 97(2):128–135PubMedCrossRefGoogle Scholar
  76. 76.
    Takahashi K, Kido S, Hoshino K, Ogawa K, Ohashi H, Fukushima Y (1995) Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: a prospective study. Eur J Pediatr 154(11):878–881PubMedCrossRefGoogle Scholar
  77. 77.
    Taylor SC, Morris G, Wilson D, Davies SJ, Gregory JW (2003) Hypoparathyroidism and 22q11 deletion syndrome. Arch Dis Child 88(6):520–522PubMedCrossRefGoogle Scholar
  78. 78.
    Tobias ES, Morrison N, Whiteford ML, Tolmie JL (1999) Towards earlier diagnosis of 22q11 deletions. Arch Dis Child 81(6):513–514PubMedCrossRefGoogle Scholar
  79. 79.
    Usiskin SI et al (1999) Velocardiofacial syndrome in childhood-onset schizophrenia. J Am Acad Child Adolesc Psychiatry 38(12):1536–1543PubMedCrossRefGoogle Scholar
  80. 80.
    Wiehahn GJ, Bosch GP, du Preez RR, Pretorius HW, Karayiorgou M, Roos JL (2004) Assessment of the frequency of the 22q11 deletion in Afrikaner schizophrenic patients. Am J Med Genet B Neuropsychiatr Genet 129B(1):20–22PubMedCrossRefGoogle Scholar
  81. 81.
    Yong DE, Booth P, Baruni J, Massie D, Stephen G, Couzin D, Dean JC (1999) Chromosome 22q11 microdeletion and congenital heart disease—a survey in a paediatric population. Eur J Pediatr 158(7):566–570PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Fabíola P. Monteiro
    • 1
  • Társis P. Vieira
    • 1
  • Ilária C. Sgardioli
    • 1
  • Miriam C. Molck
    • 1
  • Ana Paula Damiano
    • 2
  • Josiane Souza
    • 3
  • Isabella L. Monlleó
    • 4
    • 5
  • Marshall I. B. Fontes
    • 4
  • Agnes C. Fett-Conte
    • 6
  • Têmis M. Félix
    • 7
  • Gabriela F. Leal
    • 8
  • Erlane M.Ribeiro
    • 9
  • Claudio E. M. Banzato
    • 10
  • Clarissa de R. Dantas
    • 10
  • Iscia Lopes-Cendes
    • 1
  • Vera Lúcia Gil-da-Silva-Lopes
    • 1
    Email author
  1. 1.Department of Medical GeneticsUniversity of CampinasCampinasBrazil
  2. 2.Department of Neonatology and Pediatric Cardiology, Hospital das ClínicasUniversity of CampinasCampinasBrazil
  3. 3.Assistance Center for Cleft Lip and Palate (CAIF)Pontificia Universidade Catolica do Paraná (PUCPR)ParanáBrazil
  4. 4.Medical Genetics SectorState University of Alagoas (UNCISAL)MaceióBrazil
  5. 5.Clinical Genetics ServiceFederal University of Alagoas (UFAL)MaceióBrazil
  6. 6.Department of Molecular Biology, Medical School – FAMERP/FUNFARMESão José do Rio PretoBrazil
  7. 7.Medical Genetics ServiceHospital de Clinicas de Porto AlegrePorto AlegreBrazil
  8. 8.Facial Defects Treatment CenterProfessor Fernando Figueira Integral Medicine InstituteRecifeBrazil
  9. 9.Hospital Infantil Albert SabinCearáBrazil
  10. 10.Department of Medical Psychology and Psychiatry, Faculty of Medical SciencesUniversity of Campinas–UNICAMPCampinasBrazil

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