22q11 Deletion Syndrome: Copy Number Variations and Development.

Principles of Developmental Genetics: Second Edition

Volumn , Issue , 2015, Pages 677-696

  Fernandez, Alejandra ^a,b   Meechan, Daniel ^a,b   Baker, Jennifer L ^c   Karpinski, Beverly A ^a,b   LaMantia, Anthony Samuel ^a,b   Maynard, Thomas M ^a,b  

^a GW Institute for Neuroscience   (United States)

^b GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

^c THE GEORGE WASHINGTON UNIVERSITY   (United States)

Author keywords

22q11 deletion syndrome; Autism; Cardiac defects; Craniofacial disorders; DiGeorge syndrome; Microdeletion; Schizophrenia

Indexed keywords

EID: 84930758972     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-12-405945-0.00036-3     Document Type: Chapter

References (118)

1. Al-Azem H., Khan A.A. Hypoparathyroidism. Best Pract. Res. Clin. Endocrinol. Metab. 2012, 26:517-522.
2. Babcock M., Yatsenko S., Hopkins J., Brenton M., Cao Q., de Jong P., Stankiewicz P., Lupski J.R., Sikela J.M., Morrow B.E. Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/DiGeorge syndrome. Hum. Mol. Genet. 2007, 16:2560-2571.
3. Bailey J.A., Eichler E.E. Primate segmental duplications: crucibles of evolution, diversity and disease. Nat. Rev. Genet. 2006, 7:552-564.
4. Bearden C.E., van Erp T.G., Dutton R.A., Tran H., Zimmermann L., Sun D., Geaga J.A., Simon T.J., Glahn D.C., Cannon T.D., Emanuel B.S., Toga A.W., Thompson P.M. Mapping cortical thickness in children with 22q11.2 deletions. Cereb. Cortex. 2007, 17:1889-1898.
5. Beckmann J.S., Estivill X., Antonarakis S.E. Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability. Nat. Rev. Genet. 2007, 8:639-646.
6. Beddow, R., 2012. Paediatric Teratoid/Rhabdoid Tumours: Germline Deletions of Chromosome 22q11.2 In: Pediatric Cancer, Volume 3: Diagnosis, Therapy, and Prognosis, Springer Science+Business Media: Dordrecht.
7. Bizzocchi A., Genoni G., Petri A., Prodam F., Negro M., Bellone S., Bona G. Growth hormone deficiency associated with 22q11.2 deletion: a case report. Minerva. Pediatr. 2011, 63:527-531.
8. Boot E., Booij J., Abeling N., Meijer J., da Silva Alves F., Zinkstok J., Baas F., Linszen D., van Amelsvoort T. Dopamine metabolism in adults with 22q11 deletion syndrome, with and without schizophrenia - relationship with COMT Val(1)(0)(8)/(1)(5)(8)Met polymorphism, gender and symptomatology. J. Psychopharmacol. 2011, 25:888-895.
9. Botto L.D., May K., Fernhoff P.M., Correa A., Coleman K., Rasmussen S.A., Merritt R.K., O'Leary L.A., Wong L.Y., Elixson E.M., Mahle W.T., Campbell R.M. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population,. Pediatrics 2003, 112:101-107.
10. Brauner R., Le Harivel de Gonneville A., Kindermans C., Le Bidois J., Prieur M., Lyonnet S., Souberbielle J.C. Parathyroid function and growth in 22q11.2 deletion syndrome. J. Pediatr. 2003, 142:504-508.
11. Butcher N.J., Chow E.W., Costain G., Karas D., Ho A., Bassett A.S. Functional outcomes of adults with 22q11.2 deletion syndrome. Genet. Med. 2012, 14:836-843.
12. Calmont A., Ivins S., Van Bueren K.L., Papangeli I., Kyriakopoulou V., Andrews W.D., Martin J.F., Moon A.M., Illingworth E.A., Basson M.A., Scambler P.J. Tbx1 controls cardiac neural crest cell migration during arch artery development by regulating Gbx2 expression in the pharyngeal ectoderm. Development 2009, 136:3173-3183.
13. Carlson C., Sirotkin H., Pandita R., Goldberg R., McKie J., Wadey R., Patanjali S.R., Weissman S.M., Anyane-Yeboa K., Warburton D., Scambler P., Shprintzen R., Kucherlapati R., Morrow B.E. Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am. J. Hum. Genet. 1997, 61:620-629.
14. Chen L., Mupo A., Huynh T., Cioffi S., Woods M., Jin C., McKeehan W., Thompson-Snipes L., Baldini A., Illingworth E. Tbx1 regulates Vegfr3 and is required for lymphatic vessel development. J. Cell. Biol. 2010, 189:417-424.
15. Consevage M.W., Seip J.R., Belchis D.A., Davis A.T., Baylen B.G., Rogan P.K. Association of a mosaic chromosomal 22q11 deletion with hypoplastic left heart syndrome. Am. J. Cardiol. 1996, 77:1023-1025.
16. Davies E.G. Immunodeficiency in DiGeorge syndrome and options for treating cases with complete athymia. Front. Immunol. 2013, 4:322.
17. Driscoll D.A., Salvin J., Sellinger B., Budarf M.L., McDonald-McGinn D.M., Zackai E.H., Emanuel B.S. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J. Med. Genet. 1993, 30:813-817.
18. Dunham I., Collins J., Wadey R., Scambler P. Possible role for COMT in psychosis associated with velo-cardio-facial syndrome. Lancet 1992, 340:1361-1362.
19. Eicher P.S., McDonald-Mcginn D.M., Fox C.A., Driscoll D.A., Emanuel B.S., Zackai E.H. Dysphagia in children with a 22q11.2 deletion: unusual pattern found on modified barium swallow. J. Pediatr. 2000, 137:158-164.
20. Fang X., Ji H., Kim S.W., Park J.I., Vaught T.G., Anastasiadis P.Z., Ciesiolka M., McCrea P.D. Vertebrate development requires ARVCF and p120 catenins and their interplay with RhoA and Rac. J. Cell. Biol. 2004, 165:87-98.
21. Fietz S.A., Huttner W.B. Cortical progenitor expansion, self-renewal and neurogenesis-a polarized perspective. Curr. Opin. Neurobiol. 2011, 21:23-35.
22. Friedman M.A., Miletta N., Roe C., Wang D., Morrow B.E., Kates W.R., Higgins A.M., Shprintzen R.J. Cleft palate, retrognathia and congenital heart disease in velo-cardio-facial syndrome: a phenotype correlation study. Int. J. Pediatr. Otorhinolaryngol. 2011, 75:1167-1172.
23. Funato N., Nakamura M., Richardson J.A., Srivastava D., Yanagisawa H. Tbx1 regulates oral epithelial adhesion and palatal development. Hum. Mol. Genet. 2012, 21:2524-2537.
24. Gerdes M., Solot C., Wang P.P., McDonald-McGinn D.M., Zackai E.H. Taking advantage of early diagnosis: preschool children with the 22q11.2 deletion. Genet. Med. 2001, 3:40-44.
25. Girirajan S., Johnson R.L., Tassone F., Balciuniene J., Katiyar N., Fox K., Baker C., Srikanth A., Yeoh K.H., Khoo S.J., Nauth T.B., Hansen R., Ritchie M., Hertz-Picciotto I., Eichler E.E., Pessah I.N., Selleck S.B. Global increases in both common and rare copy number load associated with autism. Hum. Mol. Genet. 2013, 22:2870-2880.
26. Gogos J.A., Morgan M., Luine V., Santha M., Ogawa S., Pfaff D., Karayiorgou M. Catechol-O-methyltransferase-deficient mice exhibit sexually dimorphic changes in catecholamine levels and behavior. Proc. Natl. Acad. Sci. U S A 1998, 95:9991-9996.
27. Gogos J.A., Santha M., Takacs Z., Beck K.D., Luine V., Lucas L.R., Nadler J.V., Karayiorgou M. The gene encoding proline dehydrogenase modulates sensorimotor gating in mice. Nat. Genet. 1999, 21:434-439.
28. Gotter A.L., Shaikh T.H., Budarf M.L., Rhodes C.H., Emanuel B.S. A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2. Hum. Mol. Genet. 2004, 13:103-115.
29. Goudy S., Law A., Sanchez G., Baldwin H.S., Brown C. Tbx1 is necessary for palatal elongation and elevation. Mech. Dev. 2010, 127:292-300.
30. Guo X., Freyer L., Morrow B., Zheng D. Characterization of the past and current duplication activities in the human 22q11.2 region. BMC. Genomics. 2011, 12:71.
31. Halder A., Jain M., Kabra M., Gupta N. Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases. Mol. Cytogenet. 2008, 1:18.
32. Hatzfeld M. The p120 family of cell adhesion molecules. Eur. J. Cell. Biol. 2005, 84:205-214.
33. Herman S.B., Guo T., McGinn D.M., Blonska A., Shanske A.L., Bassett A.S., International Chromosome 22q, C, et al. Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Am. J. Med. Genet. A. 2012, 158A:2781-2787.
34. Hong J.Y., Park J.I., Cho K., Gu D., Ji H., Artandi S.E., McCrea P.D. Shared molecular mechanisms regulate multiple catenin proteins: canonical Wnt signals and components modulate p120-catenin isoform-1 and additional p120 subfamily members. J. Cell. Sci. 2010, 123:4351-4365.
35. Hurles M.E., Lupiski J.R. Genomic disorders: the genomic basis of disease 2006, 341-355. Humana Press, Totowa, N.J. J.R. Lupiski, P.T. Stankiewicz (Eds.).
36. Iafrate A.J., Feuk L., Rivera M.N., Listewnik M.L., Donahoe P.K., Qi Y., Scherer S.W., Lee C. Detection of large-scale variation in the human genome. Nat. Genet. 2004, 36:949-951.
37. Jacquet H., Raux G., Thibaut F., Hecketsweiler B., Houy E., Demilly C., Haouzir S., Allio G., Fouldrin G., Drouin V., Bou J., Petit M., Campion D., Frebourg T. PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. Hum. Mol. Genet. 2002, 11:2243-2249.
38. Jerome L.A., Papaioannou V.E. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat. Genet. 2001, 27:286-291.
39. Karpinski B.A., Maynard T.M., Fralish M.S., Nuwayhid S., Zohn I., Moody S.A., Lamantia A.S. Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge/22q11 Deletion Syndrome. Dis. Model. Mech 2013, 7(2):245-257.
40. Kiehl T.R., Chow E.W., Mikulis D.J., George S.R., Bassett A.S. Neuropathologic features in adults with 22q11.2 deletion syndrome. Cereb. Cortex. 2009, 19:153-164.
41. Kitsiou-Tzeli S., Kolialexi A., Mavrou A. Endocrine manifestations in DiGeorge and other microdeletion syndromes related to 22q11.2. Hormones (Athens) 2005, 4:200-209.
42. Klingberg G., Oskarsdottir S., Johannesson E.L., Noren J.G. Oral manifestations in 22q11 deletion syndrome. Int. J. Paediatr. Dent. 2002, 12:14-23.
43. Kraynack N.C., Hostoffer R.W., Robin N.H. Agenesis of the corpus callosum associated with DiGeorge-velocardiofacial syndrome: a case report and review of the literature. J. Child Neurol. 1999, 14:754-756.
44. Kumar R.A., KaraMohamed S., Sudi J., Conrad D.F., Brune C., Badner J.A., Gilliam T.C., Nowak N.J., Cook E.H., Dobyns W.B., Christian S.L. Recurrent 16p11.2 microdeletions in autism. Hum. Mol. Genet. 2008, 17:628-638.
45. Lay-Son G., Palomares M., Guzman M.L., Vasquez M., Puga A., Repetto G.M. Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome. Int. J. Pediatr. Otorhinolaryngol. 2012, 76:1726-1728.
46. Lee S.I., Jung H.Y., Kim S.H., Kim D.K., Mok J. Midline brain anomalies in a young schizophrenic patient with 22q11 deletion syndrome. Schizophr. Res. 2003, 60:323-325.
47. Lindsay E.A., Botta A., Jurecic V., Carattini-Rivera S., Cheah Y.C., Rosenblatt H.M., Bradley A., Baldini A. Congenital heart disease in mice deficient for the DiGeorge syndrome region. Nature 1999, 401:379-383.
48. Lindsay E.A., Baldini A. Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region. Hum. Mol. Genet. 2001, 10:997-1002.
49. Lindsay E.A., Vitelli F., Su H., Morishima M., Huynh T., Pramparo T., Jurecic V., Ogunrinu G., Sutherland H.F., Scambler P.J., Bradley A., Baldini A. Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. Nature 2001, 410:97-101.
50. Lischner H.W. DiGeorge syndrome(s). J. Pediatr. 1972, 81:1042-1044.
51. Long J.M., Laporte P., Merscher S., Funke B., Saint-Jore B., Puech A., Kucherlapati R., Morrow B.E., Skoultchi A.I., Wynshaw-Boris A. Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome. Neurogenetics. 2006, 7(4):247-257.
52. Lorente-Galdos B., Bleyhl J., Santpere G., Vives L., Ramirez O., Hernandez J., Anglada R., Cooper G.M., Navarro A., Eichler E.E., Marques-Bonet T. Accelerated exon evolution within primate segmental duplications. Genome. Biol. 2013, 14, R9.
53. Lotta T., Vidgren J., Tilgmann C., Ulmanen I., Melen K., Julkunen I., Taskinen J. Kinetics of human soluble and membrane-bound catechol O-methyltransferase: a revised mechanism and description of the thermolabile variant of the enzyme. Biochemistry (Mosc) 1995, 34:4202-4210.
54. Maiti S., Kumar K.H., Castellani C.A., O'Reilly R., Singh S.M. Ontogenetic de novo copy number variations (CNVs) as a source of genetic individuality: studies on two families with MZD twins for schizophrenia. PLoS One 2011, 6, e17125.
55. Malhotra D., McCarthy S., Michaelson J.J., Vacic V., Burdick K.E., Yoon S., et al. High frequencies of de novo CNVs in bipolar disorder and schizophrenia. Neuron 2011, 72:951-963.
56. Mansir T., Lacombe D., Lamireau T., Taine L., Chateil J.F., Le Bail B., Demarquez J.L., Fayon M. Abdominal lymphatic dysplasia and 22q11 microdeletion. Genet. Couns. 1999, 10:67-70.
57. Maynard T.M., Gopalakrishna D., Meechan D.W., Paronett E.M., Newbern J., LaMantia A.S. 22q11 gene dosage establishes an adaptive range for sonic hedgehog and retinoic acid signaling during early development. Hum. Mol. Genet. 2013, 22(2):300-312.
58. Maynard T.M., Gopalakrishna D., Meechan D.W., Paronett E.M., Newbern J.M., LaMantia A.S. 22q11 Gene dosage establishes an adaptive range for sonic hedgehog and retinoic acid signaling during early development. Hum. Mol. Genet. 2013, 22:300-312.
59. Maynard T.M., Haskell G.T., Lieberman J.A., LaMantia A.S. 22q11 DS: genomic mechanisms and gene function in DiGeorge/velocardiofacial syndrome. Int. J. Dev. Neurosci. 2002, 20:407-419.
60. Maynard T.M., Haskell G.T., Peters A.Z., Sikich L., Lieberman J.A., LaMantia A.S. A comprehensive analysis of 22q11 gene expression in the developing and adult brain. Proc. Natl. Acad. Sci. U S A 2003, 100:14433-14438.
61. McCarroll S.A., Hadnott T.N., Perry G.H., Sabeti P.C., Zody M.C., Barrett J.C., Dallaire S., Gabriel S.B., Lee C., Daly M.J., Altshuler D.M., International HapMap C. Common deletion polymorphisms in the human genome. Nat. Genet. 2006, 38:86-92.
62. McDonald-McGinn D.M., Emanuel B.S., Zackai E.H. GeneReviews 1993, Seattle (WA). R.A. Pagon, M.P. Adam, T.D. Bird, C.R. Dolan, C.T. Fong, K. Stephens (Eds.).
63. McDonald-McGinn D.M., Sullivan K.E. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore) 2011, 90:1-18.
64. Meechan D.W., Maynard T.M., Gopalakrishna D., Wu Y., LaMantia A.S. When half is not enough: gene expression and dosage in the 22q11 deletion syndrome. Gene. Expr. 2007, 13:299-310.
65. Meechan D.W., Rutz H.L., Fralish M.S., Maynard T.M., Rothblat L.A., Lamantia A.S. Cognitive ability is associated with altered medial frontal cortical circuits in the LgDel mouse model of 22q11.2DS. Cereb. Cortex. In Press 2013.
66. Meechan D.W., Tucker E.S., Maynard T.M., LaMantia A.S. Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome. Proc. Natl. Acad. Sci. U S A 2009, 106:16434-16445.
67. Meechan D.W., Tucker E.S., Maynard T.M., Lamantia A.S. Cxcr4 regulation of interneuron migration is disrupted in 22q11.2 deletion syndrome. Proc. Natl. Acad. Sci. U S A 2012, 109:18601-18606.
68. Merscher S., Funke B., Epstein J.A., Heyer J., Puech A., Lu M.M., et al. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell 2001, 104:619-629.
69. Michaelovsky E., Frisch A., Carmel M., Patya M., Zarchi O., Green T., Basel-Vanagaite L., Weizman A., Gothelf D. Genotype-phenotype correlation in 22q11.2 deletion syndrome. BMC. Med. Genet. 2012, 13:122.
70. Morrow E.M. Genomic copy number variation in disorders of cognitive development. J. Am. Acad. Child Adolesc. Psychiatry. 2010, 49:1091-1104.
71. Nickel R.E., Magenis R.E. Neural tube defects and deletions of 22q11. Am. J. Med. Genet. 1996, 66:25-27.
72. Notini A.J., Craig J.M., White S.J. Copy number variation and mosaicism. Cytogenet. Genome. Res. 2008, 123:270-277.
73. Oskarsdottir S., Persson C., Eriksson B.O., Fasth A. Presenting phenotype in 100 children with the 22q11 deletion syndrome. Eur. J. Pediatr. 2005, 164:146-153.
74. Paranaiba L.M., de Aquino S.N., Bufalino A., Martelli-Junior H., Graner E., Brito L.A., e Passos-Bueno M.R., Coletta R.D., Swerts M.S. Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population. Med. Oral. Patol. Oral. Cir. Bucal. 2013, 18:e414-e420.
75. Pasick C., McDonald-McGinn D.M., Simbolon C., Low D., Zackai E., Jackson O. Asymmetric crying facies in the 22q11.2 deletion syndrome: implications for future screening. Clin. Pediatr. (Phila) 2013, 52:1144-1148.
76. Paylor R., Glaser B., Mupo A., Ataliotis P., Spencer C., Sobotka A., et al. Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. Proc. Natl. Acad. Sci. U S A 2006, 103:7729-7734.
77. Phang J.M., Hu C.-A., Valle D. The metabolic and molecular bases of inherited disease 2001, 1821-1838. McGraw Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
78. Puech A., Saint-Jore B., Funke B., Gilbert D.J., Sirotkin H., Copeland N.G. Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization. Proc. Natl. Acad. Sci. U S A 1997, 94:14608-14613.
79. Purcell S.M., Moran J.L., Fromer M., Ruderfer D., Solovieff N., Roussos P., et al. A polygenic burden of rare disruptive mutations in schizophrenia. Nature 2014, 506:185-190.
80. Ramos-Quiroga J.A., Sanchez-Mora C., Casas M., Garcia-Martinez I., Bosch R., Nogueira M., et al. Genome-wide copy number variation analysis in adult attention-deficit and hyperactivity disorder. J. Psychiatr. Res. 2014, 49:60-67.
81. Robin N.H., Shprintzen R.J. Defining the clinical spectrum of deletion 22q11.2. J. Pediatr. 2005, 147:90-96.
82. Rommel N., Davidson G., Cain T., Hebbard G., Omari T. Videomanometric evaluation of pharyngo-oesophageal dysmotility in children with velocardiofacial syndrome. J. Pediatr. Gastroenterol. Nutr. 2008, 46:87-91.
83. Ryan A.K., Goodship J.A., Wilson D.I., Philip N., Levy A., Seidel H., et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J. Med. Genet. 1997, 34:798-804.
84. Ryckebusch L., Bertrand N., Mesbah K., Bajolle F., Niederreither K., Kelly R.G., Zaffran S. Decreased levels of embryonic retinoic acid synthesis accelerate recovery from arterial growth delay in a mouse model of DiGeorge syndrome. Circ. Res. 2010, 106:686-694.
85. Scambler P.J., Kelly D., Lindsay E., Williamson R., Goldberg R., Shprintzen R., Wilson D.I., Goodship J.A., Cross I.E., Burn J. Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Lancet 1992, 339:1138-1139.
86. Scheet P., Ehli E.A., Xiao X., van Beijsterveldt C.E., Abdellaoui A., Althoff R.R., et al. Twins, tissue, and time: an assessment of SNPs and CNVs. Twin. Res. Hum. Genet 2012, 1-9.
87. Schoenwolf G.C., Larsen W.J. Larsen's human embryology 2009, Elsevier/Churchill Livingstone, Philadelphia, PA, pp. xix, 687 p. fourth ed.
88. Sebat J., Lakshmi B., Troge J., Alexander J., Young J., Lundin P., Maner S., Massa H., Walker M., Chi M., Navin N., Lucito R., Healy J., Hicks J., Ye K., Reiner A., Gilliam T.C., Trask B., Patterson N., Zetterberg A., Wigler M. Large-scale copy number polymorphism in the human genome. Science 2004, 305:525-528.
89. Segall S.K., Nackley A.G., Diatchenko L., Lariviere W.R., Lu X., Marron J.S., et al. Comt1 genotype and expression predicts anxiety and nociceptive sensitivity in inbred strains of mice. Genes. Brain Behav. 2010, 9:933-946.
90. Shaikh T.H., Kurahashi H., 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. 2001, 3:6-13.
91. Shaikh T.H., Kurahashi H., Saitta S.C., O'Hare A.M., Hu P., Roe B.A., et al. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Hum. Mol. Genet. 2000, 9:489-501.
92. Shaikh T.H., O'Connor R.J., Pierpont M.E., McGrath J., Hacker A.M., Nimmakayalu M., et al. Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms. Genome. Res. 2007, 17:482-491.
93. Sharma P., Levesque T., Boilard E., Park E.A. Thyroid hormone status regulates the expression of secretory phospholipases. Biochem. Biophys. Res. Commun. 2014, 444(1):56-62.
94. She X., Jiang Z., Clark R.A., Liu G., Cheng Z., Tuzun E., Church D.M., Sutton G., Halpern A.L., Eichler E.E. Shotgun sequence assembly and recent segmental duplications within the human genome. Nature 2004, 431:927-930.
95. Shprintzen R.J. Velo-cardio-facial syndrome: 30 Years of study. Dev. Disabil. Res. Rev. 2008, 14:3-10.
96. Shprintzen R.J., Goldberg R.B., Lewin M.L., Sidoti E.J., Berkman M.D., Argamaso R.V., Young D. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft. Palate. J. 1978, 15:56-62.
97. Sigurdsson T., Stark K.L., Karayiorgou M., Gogos J.A., Gordon J.A. Impaired hippocampal-prefrontal synchrony in a genetic mouse model of schizophrenia. Nature 2010, 464:763-767.
98. Southard A.E., Edelmann L.J., Gelb B.D. Role of copy number variants in structural birth defects. Pediatrics 2012, 129:755-763.
99. Spencer K.M., Nestor P.G., Niznikiewicz M.A., Salisbury D.F., Shenton M.E., McCarley R.W. Abnormal neural synchrony in schizophrenia. J. Neurosci. 2003, 23:7407-7411.
100. Spencer K.M., Nestor P.G., Perlmutter R., Niznikiewicz M.A., Klump M.C., Frumin M., Shenton M.E., McCarley R.W. Neural synchrony indexes disordered perception and cognition in schizophrenia. Proceedings of the National Academy of Sciences of the United States of America 2004, 101:17288-17293.
101. Sporn A., Addington A., Reiss A.L., Dean M., Gogtay N., Potocnik U., et al. 22q11 deletion syndrome in childhood onset schizophrenia: an update. Molecular psychiatry 2004, 9:225-226.
102. Stagi S., Lapi E., Gambineri E., Manoni C., Genuardi M., Colarusso G., et al. Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11). Eur. J. Endocrinol. 2010, 163:329-337.
103. Stagi S., Lapi E., Gambineri E., Salti R., Genuardi M., et al. Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)). Clin. Endocrinol. (Oxf) 2010, 72:839-844.
104. Stark K.L., Xu B., Bagchi A., Lai W.S., Liu H., Hsu R., et al. Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model. Nat. Genet. 2008, 40:751-760.
105. Tarquinio D.C., Jones M.C., Jones K.L., Bird L.M. Growth charts for 22q11 deletion syndrome. Am. J. Med. Genet. A. 2012, 158A:2672-2681.
106. Thompson S.G., Wong P.T., Leong S.F., McGeer E.G. Regional distribution in rat brain of 1-pyrroline-5-carboxylate dehydrogenase and its localization to specific glial cells. J. Neurochem. 1985, 45:1791-1796.
107. Torres-Juan L., Rosell J., Sanchez-de-la-Torre M., Fibla J., Heine-Suner D. Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications. BMC. Med. Genet. 2007, 8:14.
108. Tran H.T., Delvaeye M., Verschuere V., Descamps E., Crabbe E., Van Hoorebeke L., et al. ARVCF depletion cooperates with Tbx1 deficiency in the development of 22q11.2DS-like phenotypes in. Xenopus. Dev. Dyn. 2011, 240:2680-2687.
109. Tunbridge E.M., Harrison P.J., Weinberger D.R. Catechol-o-methyltransferase, cognition, and psychosis: Val158Met and beyond. Biol. Psychiatry. 2006, 60:141-151.
110. van Amelsvoort T., Daly E., Henry J., Robertson D., Ng V., Owen M., et al. Brain anatomy in adults with velocardiofacial syndrome with and without schizophrenia: preliminary results of a structural magnetic resonance imaging study. Arch. Gen. Psychiatry. 2004, 61:1085-1096.
111. van Kogelenberg M., Ghedia S., McGillivray G., Bruno D., Leventer R., Macdermot K., et al. Periventricular heterotopia in common microdeletion syndromes. Molecular syndromology 2010, 1:35-41.
112. Vitelli F., Morishima M., Taddei I., Lindsay E.A., Baldini A. Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways. Hum. Mol. Genet. 2002, 11:915-922.
113. Wang Y., Li G., Stanco A., Long J.E., Crawford D., Potter G.B., Pleasure S.J., Behrens T., Rubenstein J.L. CXCR4 and CXCR7 have distinct functions in regulating interneuron migration. Neuron 2011, 69:61-76.
114. Weinzimer S.A., McDonald-McGinn D.M., Driscoll D.A., Emanuel B.S., Zackai E.H., Moshang T. Growth hormone deficiency in patients with 22q11.2 deletion: expanding the phenotype. Pediatrics 1998, 101:929-932.
115. Weiss L.A., Shen Y., Korn J.M., Arking D.E., Miller D.T., Fossdal R., et al. Association between microdeletion and microduplication at 16p11.2 and autism. N. Engl. J. Med. 2008, 358:667-675.
116. Weksberg R., Stachon A.C., Squire J.A., Moldovan L., Bayani J., Meyn S., Chow E., Bassett A.S. Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome. Hum. Genet. 2007, 120:837-845.
117. Woody N.C., Snyder C.H., Harris J.A. Hyperprolinemia: clinical and biochemical family study. Pediatrics 1969, 44:554-563.
118. Yi J.J., Tang S.X., McDonald-McGinn D.M., Calkins M.E., Whinna D.A., Souders M.C., et al. Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome. Am. J. Med. Genet. B. Neuropsychiatr. Genet 2013.