Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are Likely Mediated by Complex Low-Copy Repeats

Human Mutation

Volumn 33, Issue 1, 2012, Pages 165-179

  Stankiewicz, Pawel ^a,b   Kulkarni, Shashikant ^c,d   Dharmadhikari, Avinash V ^a   Sampath, Srirangan ^a   Bhatt, Samarth S ^a   Shaikh, Tamim H ^e   Xia, Zhilian ^a   Pursley, Amber N ^a   Cooper, M Lance ^a   Shinawi, Marwan ^c   Paciorkowski, Alex R ^f   Grange, Dorothy K ^c   Noetzel, Michael J ^c   Saunders, Scott ^c   Simons, Paul ^c   Summar, Marshall ^g   Lee, Brendan ^a   Scaglia, Fernando ^a   Fellmann, Florence ^h   Martinet, Danielle ^h   Beckmann, Jacques S ^h,i   Asamoah, Alexander ^j   Platky, Kathryn ^j   Sparks, Susan ^k   Martin, Ann S ^k   Madan Khetarpal, Suneeta ^l   Hoover, Jacqueline ^l   Medne, Livija ^m   Bonnemann, Carsten G ^m   Moeschler, John B ⁿ   Vallee, Stephanie E ⁿ   Parikh, Sumit ^o   Irwin, Polly ^o   Dalzell, Victoria P ^p   Smith, Wendy E ^p   Banks, Valerie C ^p   Flannery, David B ^q   Lovell, Carolyn M ^q   Bellus, Gary A ^e   Golden Grant, Kathryn ^e   Gorski, Jerome L ^r   Kussmann, Jennifer L ^r   McGregor, Tracy L ^s   Hamid, Rizwan ^s   Pfotenhauer, Jean ^s   Ballif, Blake C ^t   Shaw, Chad A ^a   Kang, Sung Hae L ^a   Bacino, Carlos A ^a   Patel, Ankita ^a   Rosenfeld, Jill A ^t   Cheung, Sau Wai ^a   Shaffer, Lisa G ^t   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b INSTITUTE OF MOTHER AND CHILD   (Poland)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d USA   (United States)

^e Children's Hospital Colorado   (United States)

^f UNIVERSITY OF WASHINGTON   (United States)

^g CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^h LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

ⁱ UNIVERSITY OF LAUSANNE   (Switzerland)

^j University of Louisville School of Medicine   (United States)

^k CAROLINAS MEDICAL CENTER   (United States)

^l CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^m CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

ⁿ CHILDREN S HOSPITAL AT DARTMOUTH   (United States)

^o LERNER RESEARCH INSTITUTE   (United States)

^p Maine Medical Partners   (United States)

^q MEDICAL COLLEGE OF GEORGIA   (United States)

^r UNIVERSITY OF MISSOURI   (United States)

^s MONROE CARELL JR CHILDREN S HOSPITAL AT VANDERBILT   (United States)

^t PERKINELMER INC   (United States)

more..

Author keywords

Array CGH; Chat; Genomic rearrangement; Slc18a3

Indexed keywords

CARRIER PROTEIN; CHAT PROTEIN; CHOLINE ACETYLTRANSFERASE; UNCLASSIFIED DRUG; VESICULAR ACETYLCHOLINE TRANSPORTER;

ADOLESCENT; ADULT; ARTICLE; ATAXIA; CHILD; CHROMOSOME 10Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; CLINICAL FEATURE; CONSTIPATION; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; DYSPHAGIA; EPILEPSY; FEMALE; GASTROESOPHAGEAL REFLUX; GENE MAPPING; GENE REARRANGEMENT; HOMOLOGOUS RECOMBINATION; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; MALE; MICROARRAY ANALYSIS; MUSCLE HYPOTONIA; NUCLEOTIDE SEQUENCE; NYSTAGMUS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; SCHOOL CHILD; SEGMENTAL DUPLICATION; SLEEP APNEA SYNDROME; VESICOURETERAL REFLUX;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 10; DEVELOPMENTAL DISABILITIES; DNA COPY NUMBER VARIATIONS; FEMALE; GENETIC VARIATION; HOMOLOGOUS RECOMBINATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INTELLECTUAL DISABILITY; MALE; NERVE GROWTH FACTORS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PENETRANCE; SEGMENTAL DUPLICATIONS, GENOMIC; SEQUENCE DELETION; VESICULAR ACETYLCHOLINE TRANSPORT PROTEINS;

EID: 84857688369     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21614     Document Type: Article

References (59)

1. Bademci G, Edwards TL, Torres AL, ScottWK, Zuchner S,Martin ER, Vance JM,Wang L. 2010.Arare novel deletion of the tyrosine hydroxylase gene in Parkinson disease. Hum Mutat 31:E1767-E1771.
2. Bailey JA, Gu Z, Clark RA, Reinert K, Samonte RV, Schwartz S, AdamsMD,Myers EW, Li PW, Eichler EE. 2002. Recent segmental duplications in the human genome. Science 297:1003-1007.
3. Bailey JA, Yavor AM, Massa HF, Trask BJ, Eichler EE. 2001. Segmental duplications: organization and impact within the current human genome project assembly. Genome Res 11:1005-1017.
4. Ballif BC, Hornor SA, Jenkins E,Madan-Khetarpal S, Surti U, Jackson KE, Asamoah A, Brock PL, Gowans GC, Conway RL, Graham JM, Jr.,Medne L, Zackai EH, Shaikh TH, Geoghegan J, Selzer RR, Eis PS, Bejjani BA, Shaffer LG. 2007. Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet 39:1071-1073.
5. Ballif BC, Theisen A, Coppinger J, Gowans GC,Hersh JH,Madan-Khetarpal S, Schmidt KR, Tervo R, Escobar LF, FriedrichCA,McDonald M, Campbell L,Ming JE, Zackai EH, Bejjani BA, Shaffer LG. 2008a. Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocalmicroduplication. Mol Cytogenet 1:8.
6. Ballif BC,TheisenA,McDonald-McGinnDM,Zackai EH,Hersh JH, Bejjani BA, Shaffer LG. 2008b. Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2. Clin Genet 74:469-475.
7. Barber JC, Maloney VK, Huang S, Bunyan DJ, Cresswell L, Kinning E, Benson A, Cheetham T, Wyllie J, Lynch SA, Zwolinski S, Prescott L, Crow Y, Morgan R, Hobson E. 2008. 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH. Eur J Hum Genet 16:18-27.
8. Berg JS, Brunetti-Pierri N, Peters SU, Kang SH, Fong CT, Salamone J, Freedenberg D, Hannig VL, Prock LA, Miller DT, Raffalli P, Harris DJ, Erickson RP, Cunniff C, Clark GD, Blazo MA, Peiffer DA, Gunderson KL, Sahoo T, Patel A, Lupski JR, Beaudet AL, Cheung SW. 2007. Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23Williams-Beuren syndrome region. Genet Med 9:427-441.
9. Bisgaard AM, Kirchhoff M, Nielsen JE, Brandt C, Hove H, Jepsen B, Jensen T, Ullmann R, Skovby F. 2007. Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants? Eur JMed Genet 50:243-255.
10. BrandonEP,Mellott T, PizzoDP, CoufalN, D'AmourKA, GobeskeK,LortieM,López-Coviella I, Berse B, Thal LJ, Gage FH, Blusztajn JK. 2004. Choline transporter 1 maintains cholinergic function in choline acetyltransferase haploinsufficiency. J Neurosci 24:5459-5466.
11. Cheung SW, Shaw CA, Yu W, Li J, Ou Z, Patel A, Yatsenko SA, Cooper ML, Furman P, Stankiewicz P, Lupski JR, Chinault AC, Beaudet AL. 2005. Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med 7:422-432.
12. Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, Fitzgerald T, Hu M, Ihm CH, Kristiansson K, Macarthur DG, Macdonald JR, Onyiah I, Pang AW, Robson S, Stirrups K, Valsesia A, Walter K,Wei J;Wellcome Trust Case Control Consortium, Tyler-Smith C, CarterNP, Lee C, Scherer SW, Hurles ME. 2010. Origins and functional impact of copy number variation in the human genome. Nature 464:704-712.
13. Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L, Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE, Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H, Bray-Allen S, Brown AJ, Brown JY, Burford DC, BurrillW, Burton J, Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S, Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E, Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C, Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, KershawJK,Kokkinaki M, LairdGK, Lawlor S, LeeHM, LeongamornlertDA, Laird G, Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE, McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson T, Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan S, Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou T, Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore N, Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J,WallM,Walsh J,Wang H,Weinstock K,West AP,Willey DL, Whitehead SL,Wilming L,Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK, Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T, Doucette-Stamm L, Beck S, Smith DR, Rogers J. 2004. The DNA sequence and comparative analysis of human chromosome 10. Nature 429:375-381.
14. Duker AL, Ballif BC, Bawle EV, Person RE, Mahadevan S, Alliman S, Thompson R, Traylor R, Bejjani BA, Shaffer LG, Rosenfeld JA, Lamb AN, Sahoo T. 2010. Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome. Eur JHumGenet 18:119-1201.
15. Ensenauer RE, Adeyinka A, Flynn HC, Michels VV, Lindor NM, Dawson DB, Thorland EC, Lorentz CP, Goldstein JL, McDonald MT, Smith WE, Simon-Fayard E, Alexander AA, Kulharya AS, Ketterling RP, Clark RD, Jalal SM. 2003. Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet 73:1027-1040.
16. Falik-Zaccai TC, Laskar M, Kfir N, Nasser W, Slor H, Khayat M. 2008. Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6. Am J Med Genet A 146A:1423-1429.
17. Fewtrell MS, Tam PK, Thomson AH, Fitchett M, Currie J, Huson SM, Mulligan LM. 1994. Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies? J Med Genet 31:325-327.
18. Fryns JP, Bulcke J, Verdu P, Carton H, Kleczkowska A, Van den Berghe H. 1991. Apparent late-onset Cockayne syndrome and interstitial deletion of the long arm of chromosome 10 (del(10)(q11.23q21.2)). Am J Med Genet 40:343-344.
19. Ghai SJ, Shago M, Shroff M, Yoon G. 2011. Cockayne syndrome caused by paternally inherited 5 Mb deletion of 10q11.2 and a frameshift mutation of ERCC6. Eur J Med Genet 54:272-276.
20. Girirajan S, Eichler EE. 2010. Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet 19:R176-187.
21. Girirajan S, Rosenfeld JA, Cooper GM,Antonacci F, Siswara P, Itsara A, Vives L,Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gécz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE. 2010. A recurrent 16p12.1 microdeletion supports a two-hitmodel for severe developmental delay.Nat Genet 42:203-209.
22. Hannes FD, Sharp AJ, Mefford HC, deRavel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, Van Buggenhout G, Vogels A, Stewart HH, Hennekam RC, Cooper GM, Regan R, Knight SJ, Eichler EE, Vermeesch JR. 2009. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCAwhile the duplication may be a rare benign variant. JMedGenet 46:223-232.
23. Harold D, Peirce T,Moskvina V,Myers A, Jones S,Hollingworth P,Moore P, Lovestone S, Powell J, Foy C, Archer N,Walter S, EdmonsonA, McIlroy S,CraigD, Passmore PA, Goate A, Hardy J, O'Donovan M, Williams J, Liddell M, Owen MJ, Jones L. 2003. Sequence variation in the CHAT locus shows no association with late-onset Alzheimer's disease. Hum Genet 113:258-267.
24. Holden JJ, MacDonald EA. 1985. Brief clinical report: interstitial deletion of the long arm of chromosome 10: del(10)(q11.2q21). Am J Med Genet 20:245-248.
25. Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, Krauss RM, Myers RM, Ridker PM, Chasman DI, Mefford H, Ying P, Nickerson DA, Eichler EE. 2009. Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 84:148-161.
26. Kirchhoff M, Gerdes T, Brunebjerg S, Bryndorf T. 2005. Investigation of patients with mental retardation and dysmorphic features using comparative genomic hybridization and subtelomericmultiplex ligation dependent probe amplification. Am J Med Genet A 139:231-233.
27. Kirov G, Grozeva D, Norton N, Ivanov D, Mantripragada KK, Holmans P, Craddock N, Owen MJ, O'Donovan MC. 2009. Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. Hum Mol Genet 18:1497-1503.
28. Klopocki E, Schulze H, Strauss G, Ott C-E, Hall J, Trotier F, Fleischhauer S, Greenhalgh L, Newbury-Ecob RA, Neumann LM, Habenicht R, Konig R, Seemanova E,Megarbane A, Ropers H-H, Ullmann R, Horn D,Mundlos S. 2007. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet 80:232-240.
29. Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, Kooy RF, Reyniers E, Romano C, FicheraM, Schinzel A, Baumer A, Anderlid BM, Schoumans J, Knoers NV, van Kessel AG, Sistermans EA, Veltman JA, Brunner HG, de Vries BB. 2006. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet 38:999-1001.
30. Kurotaki N, Shen JJ, Touyama M, Kondoh T, Visser R, Ozaki T, Nishimoto J, Shiihara T, Uetake K, Makita Y, Harada N, Raskin S, Brown CW, Hoglund P, Okamoto N, Lupski JR. 2005. Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Genet Med 7:479-483.
31. Lobo S, Cervenka J, London A, Pierpont ME. 1992. Interstitial deletion of 10q: clinical features and literature review. Am J Med Genet 43:701-703.
32. Lu X, Shaw CA, Patel A, Li J, Cooper ML, Wells WR, Sullivan CM, Sahoo T, Yatsenko SA, Bacino CA, Stankiewicz P, Ou Z, Chinault AC, Beaudet AL, Lupski JR, Cheung SW,Ward PA. 2007. Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One 2:e327.
33. Lupski JR. 1998. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 14:417-422.
34. Mefford HC, Eichler EE. 2009. Duplication hotspots, rare genomic disorders, and common disease. Curr Opin Genet Dev 19:196-204.
35. Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de LeeuwN, ReardonW,Gimelli S, Bena F, HennekamRC,Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Lo Giudice M, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC,Willatt L, TassabehjiM, Eichler EE. 2008. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 359:1685-1699.
36. Ohno K, Tsujino A, Brengman JM, Harper CM, Bajzer Z, Udd B, Beyring R, Robb S, Kirkham FJ, Engel AG. 2001. Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. Proc Natl Acad Sci USA 98:2017-2022.
37. Ou Z, Kang SH, Shaw CA, Carmack CE, White LD, Patel A, Beaudet AL, Cheung SW, Chinault AC. 2008. Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses. Genet Med 10:278-289.
38. Parsons JD. 1995a. Miropeats: graphical DNA sequence comparisons. Comput Appl Biosci 11:615-619.
39. Parsons JD. 1995b. Improved tools for DNA comparison and clustering. Comput Appl Biosci 11:603-613.
40. Potocki L, BiW, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA,Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko SA, Zackai EH, Stankiewicz P, Lupski JR. 2007. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet 80:633-649.
41. Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR. 2000. Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet 24:84-87.
42. Puliti A, Covone AE, Bicocchi MP, Bolino A, Lerone M, Martucciello G, Jasonni V, Romeo G. 1993. Deleted and normal chromosome 10 homologs from a patient with Hirschsprung disease isolated in two cell hybrids through enrichment by immunomagnetic selection. Cytogenet Cell Genet 63:102-106.
43. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, González JR, Gratacòs M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A,Woodwark C, Yang F, Zhang J, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME. 2006. Global variation in copy number in the human genome. Nature 444:444-454.
44. Shaffer LG, Ledbetter DH, Lupski JR. 2001.Molecular cytogenetics of contiguous gene syndromes: mechanisms and consequences of gene dosage imbalance. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B, editors. Metabolic and molecular basis of inherited disease. New York: McGraw Hill. p 1291-1324.
45. Shaffer LG, Lupski JR. 2000. Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu Rev Genet 34:297-329.
46. Shah PS, Murthy P, Skidmore D, Shaffer LG, Bejjani BA, Chitayat D. 2008. Williams syndrome in a preterm infant with phenotype of Alagille syndrome. Am J Med Genet A 146A:2407-2411.
47. Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'Arcy M, Frackelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, Medne L, Annaiah K, Bradfield JP, Dabaghyan E, Eckert A, Onyiah CC, Ostapenko S, Otieno FG, Santa E, Shaner JL, Skraban R, Smith RM, Elia J, Goldmuntz E, Spinner NB, Zackai EH, Chiavacci RM, Grundmeier R, Rappaport EF, Grant SF, White PS, Hakonarson H. 2009. High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res 19:1682-1690.
48. Shapiro SD,HansenKL, Pasztor LM, DiLiberti JH, Jorgenson RJ, Young RS,MooreCM. 1985. Deletions of the long arm of chromosome 10. Am J Med Genet 20:181-196.
49. Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C, AlbertsonDG, Pinkel D, Eis PS, Schwartz S, Knight SJ, Eichler EE. 2006. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet 38:1038-1042.
50. Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Schroer RJ, Novara F, De Gregori M, Ciccone R, Broomer A, Casuga I, Wang Y, Xiao C, Barbacioru C, Gimelli G, Bernardina BD, Torniero C, Giorda R, Regan R,Murday V, Mansour S, Fichera M, Castiglia L, Failla P, Ventura M, Jiang Z, Cooper GM, Knight SJ, Romano C, Zuffardi O, Chen C, Schwartz CE, Eichler EE. 2008. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet 40:322-328.
51. Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, Porter K, Prigmore E, Krepischi-Santos AC, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, de Silva R, Carter NP. 2006. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet 38:1032-1037.
52. Somerville MJ, Mervis CB, Young EJ, Seo EJ, del Campo M, Bamforth S, Peregrine E, Loo W, Lilley M, Perez-Jurado LA, Morris CA, Scherer SW, Osborne LR. 2005. Severe expressive-language delay related to duplication of the Williams-Beuren locus. N Engl J Med 353:1694-1701.
53. Stankiewicz P, Lupski JR. 2002. Genome architecture, rearrangements and genomic disorders. Trends Genet 18:74-82.
54. Stankiewicz P, Shaw CJ, Dapper JD,Wakui K, Shaffer LG,Withers M, Elizondo L, Park SS, Lupski JR. 2003. Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am J Hum Genet 72:1101-1116.
55. Ullmann R, Turner G, Kirchhoff M, Chen W, Tonge B, Rosenberg C, Field M, Vianna-Morgante AM, Christie L, Krepischi-Santos AC, Banna L, Brereton AV, Hill A, Bisgaard AM, Muller I, Hultschig C, Erdogan F, Wieczorek G, Ropers HH. 2007. ArrayCGHidentifies reciprocal 16p13.1 duplications anddeletions thatpredispose to autism and/or mental retardation. Hum Mutat 28:674-682.
56. Willatt L, Cox J, Barber J, Cabanas ED, Collins A, Donnai D, FitzPatrick DR, Maher E, Martin H, Parnau J, Pindar L, Ramsay J, Shaw-SmithC, Sistermans EA, Tettenborn M, Trump D, de Vries BB, Walker K, Raymond FL. 2005. 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. AmJ Hum Genet 77:154-160.
57. 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, Haase S, Elyas B, Lilley M, Bamforth S,McDermid HE. 2005.Microduplication and triplication of 22q11.2: a highly variable syndrome. AmJ Hum Genet 76:865-876.
58. Zenger-Hain JL, Roberson J, Van Dyke DL, Weiss L. 1993. Interstitial deletion of chromosome 10, del(10) (q11.2q22.1) in a boy with developmental delay and multiple congenital anomalies. Am J Med Genet 46:438-440.
59. Zogopoulos G, Ha KC, Naqib F,Moore S, Kim H,Montpetit A, Robidoux F, Laflamme P, Cotterchio M, Greenwood C, Scherer SW, Zanke B, Hudson TJ, Bader GD, Gallinger S. 2007. Germ-line DNA copy number variation frequencies in a large North American population. Hum Genet 122:345-353.