1. Aldred MA, Aftimos S, Hall C, Waters KS, Thakker RV, Trembath RC, Brueton L. Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy. Am J Med Genet. 2002 Nov 22;113(2):167-72. PMID: 12407707 [PubMed - indexed for MEDLINE]

2. Aldred MA, Sanford RO, Thomas NS, Barrow MA, Wilson LC, Brueton LA, Bonaglia MC, Hennekam RC, Eng C, Dennis NR, Trembath RC: J Med Genet. 2004 Jun;41(6):433-9. Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes. PMID: 15173228 [PubMed - indexed for MEDLINE]

3. Baekvad-Hansen M, Tumer Z, Delicado A, Erdogan F, Tommerup N, Larsen LA. Am J Med Genet A. 2006 Mar 1;140(5):427-33. Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease. PMID: 16470726 [PubMed - indexed for MEDLINE]

4. Balciuniene J, Feng N, Iyadurai K, Hirsch B, Charnas L, Bill BR, Easterday MC, Staaf J, Oseth L, Czapansky-Beilman D, Avramopoulos D, Thomas GH, Borg A, Valle D, Schimmenti LA, Selleck SB. Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities. Am J Hum Genet. 2007 May;80(5):938-47. Epub 2007 Mar 20. PMID: 17436248 [PubMed - indexed for MEDLINE]

5. Balemans W, Patel N, Ebeling M, Van Hul E, Wuyts W, Lacza C, Dioszegi M, Dikkers FG, Hildering P, Willems PJ, Verheij JB, Lindpaintner K, Vickery B, Foernzler D, Van Hul W. Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease. J Med Genet. 2002 Feb;39(2):91-7. PMID: 11836356 [PubMed - indexed for MEDLINE]

6. Bendavid C, Pasquier L, Watrin T, Morcel K, Lucas J, Gicquel I, Dubourg C, Henry C, David V, Odent S, Leveque J, Pellerin I, Guerrier D. Phenotypic variability of a 4q34-->qter inherited deletion: MRKH syndrome in the daughter, cardiac defect and Fallopian tube cancer in the mother. Eur J Med Genet. 2006 Oct 1; [Epub ahead of print] PMID: 17081814 [PubMed - as supplied by publisher]

7. Bendavid C, Dubourg C, Gicquel I, Pasquier L, Saugier-Veber P, Durou MR, Jaillard S, Frebourg T, Haddad BR, Henry C, Odent S, David V. Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes. Hum Genet. 2006 Mar;119(1-2):1-8. Epub 2005 Dec 2. PMID: 16323008 [PubMed - in process]

8. Bonaglia MC, Giorda R, Mani E, Aceti G, Anderlid BM, Baroncini A, Pramparo T, Zuffardi O. Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. J Med Genet. 2006 Oct;43(10):822-8. Epub 2005 Nov 11. PMID: 16284256 [PubMed - in process]

9. Britanova O, Depew MJ, Schwark M, Thomas BL, Miletich I, Sharpe P, Tarabykin V. Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development. Am J Hum Genet. 2006 Oct;79(4):668-78. Epub 2006 Aug 30. PMID: 16960803 [PubMed - indexed for MEDLINE]

10. Brockschmidt A, Todt U, Ryu S, Hoischen A, Landwehr C, Birnbaum S, Frenck W, Radlwimmer B, Lichter P, Engels H, Driever W, Kubisch C, Weber RG. Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. Hum Mol Genet. 2007 Jun 15;16(12):1488-94. Epub 2007 May 3. PMID: 17478476 [PubMed - in process].

11. Bruder CE, Hirvela C, Tapia-Paez I, Fransson I, Segraves R, Hamilton G, Zhang XX, Evans DG, Wallace AJ, Baser ME, Zucman-Rossi J, Hergersberg M, Boltshauser E, Papi L, Rouleau GA, Poptodorov G, Jordanova A, Rask-Andersen H, Kluwe L, Mautner V, Sainio M, Hung G, Mathiesen T, Moller C, Pulst SM, Harder H, Heiberg A, Honda M, Niimura M, Sahlen S, Blennow E, Albertson DG, Pinkel D, Dumanski JP. High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH. Hum Mol Genet. 2001 Feb 1;10(3):271-82.

12. Cardoso C, Leventer RJ, Ward HL, Toyo-Oka K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH. Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet. 2003 Apr;72(4):918-30. Epub 2003 Mar 5. PMID: 12621583 [PubMed - indexed for MEDLINE]

13. Cargile CB, Goh DL, Goodman BK, Chen XN, Korenberg JR, Semenza GL, Thomas GH. Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome. Am J Med Genet. 2002 Apr 22;109(2):133-8. PMID: 11977162 [PubMed - indexed for MEDLINE]

14. Cody JD, Sebold C, Malik A, Heard P, Carter E, Crandall A, Soileau B, Semrud-Clikeman M, Cody CM, Hardies LJ, Li J, Lancaster J, Fox PT, Stratton RF, Perry B, Hale DE. Recurrent interstitial deletions of proximal 18q: a new syndrome involving expressive speech delay. Am J Med Genet A. 2007 Jun 1;143(11):1181-90. PMID: 17486614 [PubMed - in process]

15. Delnatte C, Sanlaville D, Mougenot JF, Vermeesch JR, Houdayer C, Blois MC, Genevieve D, Goulet O, Fryns JP, Jaubert F, Vekemans M, Lyonnet S, Romana S, Eng C, Stoppa-Lyonnet D. Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. Am J Hum Genet. 2006 Jun;78(6):1066-74. Epub 2006 Apr 14. PMID: 16685657 [PubMed - indexed for MEDLINE]

16. Dijkhuizen T, van Essen T, van der Vlies P, Verheij JB, Sikkema-Raddatz B, van der Veen AY, Gerssen-Schoorl KB, Buys CH, Kok K. FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions. Am J Med Genet A. 2006 Nov 15;140(22):2482-7. PMID: 17036314 [PubMed - indexed for MEDLINE]

17. Faivre L, Cormier-Daire V, Lapierre JM, Colleaux L, Jacquemont S, Genevieve D, Saunier P, Munnich A, Turleau C, Romana S, Prieur M, De Blois MC, Vekemans M. Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype. J Med Genet. 2002 Aug;39(8):594-6. No abstract available. Erratum in: J Med Genet. 2004 Apr;41(4):320. PMID: 12161602 [PubMed - indexed for MEDLINE]

18. Footz TK, Brinkman-Mills P, Banting GS, Maier SA, Riazi MA, Bridgland L, Hu S, Birren B, Minoshima S, Shimizu N, Pan H, Nguyen T, Fang F, Fu Y, Ray L, Wu H, Shaull S, Phan S, Yao Z, Chen F, Huan A, Hu P, Wang Q, Loh P, Qi S, Roe BA, McDermid HE. Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere. Genome Res. 2001 Jun;11(6):1053-70.

19. Goodman FR, Majewski F, Collins AL, Scambler PJ. A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly. Am J Hum Genet. 2002 Feb;70(2):547-55. Epub 2002 Jan 3. PMID: 11778160 [PubMed - indexed for MEDLINE]

20. Grinberg I, Northrup H, Ardinger H, Prasad C, Dobyns WB, Millen KJ. Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.Nat Genet. 2004 Oct;36(10):1053-5. Epub 2004 Aug 29. PMID: 15338008 [PubMed - indexed for MEDLINE]

21. Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PC, Costa T, Janssens K, Menten B, Van Roy N, Vermeulen SJ, Savarirayan R, Van Hul W, Vanhoenacker F, Huylebroeck D, De Paepe A, Naeyaert JM, Vandesompele J, Speleman F, Verschueren K, Coucke PJ, Mortier GR. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet. 2004 Nov;36(11):1213-8. Epub 2004 Oct 17. PMID: 15489854 [PubMed - indexed for MEDLINE]

22. Kehrer-Sawatzki H, Kluwe L, Sandig C, Kohn M, Wimmer K, Krammer U, Peyrl A, Jenne DE, Hansmann I, Mautner VF. High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene. Am J Hum Genet. 2004 Sep;75(3):410-23. Epub 2004 Jul 15. PMID: 15257518 [PubMed - indexed for MEDLINE]

23. Khan A, Hyde RK, Dutra A, Mohide P, Liu P. Core binding factor beta (CBFB) haploinsufficiency due to an interstitial deletion at 16q21q22 resulting in delayed cranial ossification, cleft palate, congenital heart anomalies, and feeding difficulties but favorable outcome. Am J Med Genet A. 2006 Nov 1;140(21):2349-54. PMID: 17022082 [PubMed - in process]

24. Kirchhoff M, Bisgaard AM, Bryndorf T, Gerdes T. MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions. Eur J Med Genet. 2006 Oct 10; [Epub ahead of print] PMID: 17090394 [PubMed - as supplied by publisher]

25. Klopocki E, Schulze H, Strauss G, Ott CE, Hall J, Trotier F, Fleischhauer S, Greenhalgh L, Newbury-Ecob RA, Neumann LM, Habenicht R, Konig R, Seemanova E, Megarbane A, Ropers HH, Ullmann R, Horn D, Mundlos S. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. 2007 Feb;80(2):232-40. Epub 2006 Dec 21.PMID: 17236129 [PubMed - indexed for MEDLINE]

26. Koolen DA, Herbergs J, Veltman JA, Pfundt R, van Bokhoven H, Stroink H, Sistermans EA, Brunner HG, Geurts van Kessel A, de Vries BB. Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1. J Hum Genet. 2006;51(8):721-6. Epub 2006 Jul 25. PMID: 16865294 [PubMed - indexed for MEDLINE]

27. Lesnik Oberstein SA, Kriek M, White SJ, Kalf ME, Szuhai K, den Dunnen JT, Breuning MH, Hennekam RC. Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet. 2006 Sep;79(3):562-6. Epub 2006 Jul 19. PMID: 16909395 [PubMed - indexed for MEDLINE]

28. Li P, Zhang HZ, Huff S, Nimmakayalu M, Qumsiyeh M, Yu J, Szekely A, Xu T, Pober BR. Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement. Am J Med Genet A. 2006;140:2721-2729

29. McTaggart KE, Budarf ML, Driscoll DA, Emanuel BS, Ferreira P, McDermid HE. Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints. Cytogenet Cell Genet. 1998;81(3-4):222-8. PMID: 9730608 [PubMed - indexed for MEDLINE]

30. Menten B, Buysse K, Zahir F, Hellemans J, Hamilton SJ, Costa T, Fagerstrom C, Anadiotis G, Kingsbury D, McGillivray BC, Marra MA, Friedman JM, Speleman F, Mortier G. Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14. J Med Genet. 2007 Apr;44(4):264-8. Epub 2007 Jan 12.

31. Potocki L, Bi W, 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. 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. 2007 Apr;80(4):633-49. Epub 2007 Feb 26. PMID: 17357070 [PubMed - in process]

32. Pramparo T, Mattina T, Gimelli S, Liehr T, Zuffardi O. Narrowing the deleted region associated with the 15q21 syndrome. Eur J Med Genet. 2005 Jul-Sep;48(3):346-52. PMID: 16179230 [PubMed - indexed for MEDLINE]

33. Rajcan-Separovic E, Harvard C, McGillivray B, Hall J, Qiao Y, Hurlburt J, Hildebrand J, Mickelson E, Holden J, Lewis S. Clinical and molecular cytogenetic characterization of a newly recognized microdeletion syndrome involving 2p15-16.1. J Med Genet. 2006 Sep 8; [Epub ahead of print] PMID: 16963482 [PubMed - as supplied by publisher]

34. 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, Gonzalez JR, Gratacos 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. Global variation in copy number in the human genome. Nature. 2006 Nov 23;444(7118):444-54. PMID: 17122850 [PubMed - in process]

35. Redon R, Baujat G, Sanlaville D, Le Merrer M, Vekemans M, Munnich A, Carter NP, Cormier-Daire V, Colleaux L. Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome. Eur J Hum Genet. 2006 Jun;14(6):759-67. PMID: 16570072 [PubMed - indexed for MEDLINE]

36. Sahoo T, Shaw CA, Young AS, Whitehouse NL, Schroer RJ, Stevenson RE, Beaudet AL. Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements. Am J Med Genet A. 2005 Dec 1;139(2):106-13. PMID: 16284940 [PubMed - indexed for MEDLINE]

37. 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, Albertson DG, Pinkel D, Eis PS, Schwartz S, Knight SJ, Eichler EE. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet. 2006 Sep;38(9):1038-42. Epub 2006 Aug 13. PMID: 16906162 [PubMed - indexed for MEDLINE]

38. Sharp AJ, Selzer RR, Veltman JA, Gimelli S, Gimelli G, Striano P, Coppola A, Regan R, Price SM, Knoers NV, Eis PS, Brunner HG, Hennekam RC, Knight SJ, de Vries BB, Zuffardi O, Eichler EE. Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet. 2007 Mar 1;16(5):567-72. Epub 2007 Mar 14. PMID: 17360722 [PubMed - in process]

39. Slavotinek A, Lee SS, Davis R, Shrit A, Leppig KA, Rhim J, Jasnosz K, Albertson D, Pinkel D. Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. J Med Genet. 2005 Sep;42(9):730-6. PMID: 16141010 [PubMed - indexed for MEDLINE]

40. Tentler D, Gustavsson P, Elinder G, Eklof O, Gordon L, Mandel A, Dahl N. A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome. J Med Genet. 2000 Feb;37(2):128-31. PMID: 10662814 [PubMed - indexed for MEDLINE]

41. Thomas, NS.; Sharp, AJ.; Browne, CE.; Skuse, D.; Hardie, C.; Dennis, NR. Xp deletions associated with autism in three females. Hum. Genet. 104: 43-48, 1999. PubMed ID : 10071191

42. 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. Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Hum Mutat 2007;28:674-682

43. Van Buggenhout G, Van Ravenswaaij-Arts C, Mc Maas N, Thoelen R, Vogels A, Smeets D, Salden I, Matthijs G, Fryns JP, Vermeesch JR. The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients. Eur J Med Genet. 2005 Jul-Sep;48(3):276-89. PMID: 16179223 [PubMed - indexed for MEDLINE]

44. Velinov M, Kupferman J, Gu H, Macera MJ, Babu A, Jenkins EC, Kupchik G. Polycystic kidneys and del (4)(q21.1q21.3): further delineation of a distinct phenotype. Eur J Med Genet. 2005 Jan-Mar;48(1):51-5. Epub 2005 Feb 12. PMID: 15953406 [PubMed - indexed for MEDLINE]

45. Wakui, K.; Gregato, G.; Ballif, B. C.; Glotzbach, C. D.; Bailey, K. A.; Kuo, P.-L.; Sue, W.-C.; Sheffield, L. J.; Irons, M.; Gomez, E. G.; Hecht, J. T.; Potocki, L.; Shaffer, L. G. Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. Europ. J. Hum. Genet. 13: 528-540, 2005. PubMed ID : 15852040

46. Willatt LR, Barber JC, Clarkson A, Simonic I, Raymond FL, Docherty Z, Ogilvie CM. Novel deletion variants of 9q13-q21.12 and classical euchromatic variants of 9q12/qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin. Eur J Hum Genet. 2006 Sep 20; [Epub ahead of print] PMID: 16985501 [PubMed - as supplied by publisher]

47. Wilkie, A. O. M.; Tang, Z.; Elanko, N.; Walsh, S.; Twigg, S. R. F.; Hurst, J. A.; Wall, S. A.; Chrzanowska, K. H.; Maxson, R. E., Jr. Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. Nature Genet. 24: 387-390, 2000. PubMed ID : 10742103

48. Zhang X, Snijders A, Segraves R, Zhang X, Niebuhr A, Albertson D, Yang H, Gray J, Niebuhr E, Bolund L, Pinkel D. High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization.Am J Hum Genet. 2005 Feb;76(2):312-26. Epub 2005 Jan 4. PMID: 15635506 [PubMed - indexed for MEDLINE]

49. Zhang Y, Malekpour M, Al-Madani N, Kahrizi K, Zanganeh M, Mohseni M, Mojahedi F, Daneshi A, Najmabadi H, Smith RJ. Sensorineural deafness and male infertility: a contiguous gene deletion syndrome. J Med Genet. 2007 Apr;44(4):233-40. Epub 2006 Nov 10. PMID: 17098888 [PubMed - indexed for MEDLINE]

50. Zollino M, Lecce R, Fischetto R, Murdolo M, Faravelli F, Selicorni A, Butte C, Memo L, Capovilla G, Neri G. Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am J Hum Genet. 2003 Mar;72(3):590-7. Epub 2003 Jan 30. PMID: 12563561 [PubMed - indexed for MEDLINE]