| 1 | DEL9Q22, NBCCS2, PTCH1
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| Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.
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| Garavelli L, Piemontese MR, Cavazza A, Rosato S, Wischmeijer A, Gelmini C, Albertini E, Albertini G, Forzano F, Franchi F, Carella M, Zelante L, Superti-Furga A.
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| Am J Med Genet A m J Med Genet A. 2013 Oct 7. doi: 10.1002/ajmg.a.36259. [Epub ahead of print] 2013
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| 2 | BCNS, DEL9Q22, PTCH1
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| Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.
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| Muller EA, Aradhya S, Atkin JF, Carmany EP, Elliott AM, Chudley AE, Clark RD, Everman DB, Garner S, Hall BD, Herman GE, Kivuva E, Ramanathan S, Stevenson DA, Stockton DW, Hudgins L.
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| Am J Med Genet A 158A(2):391-9. doi: 10.1002/ajmg.a.34216. Epub 2011 Dec 21. 2012
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| 3 | DEL9Q22, PTCH1, WT1
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| Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas.
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| Isidor B, Bourdeaut F, Lafon D, Plessis G, Lacaze E, Kannengiesser C, Rossignol S, Pichon O, Briand A, Martin-Coignard D, Piccione M, David A, Delattre O, Jeanpierre C, Sévenet N, Le Caignec C.
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| Eur J Hum Genet ur J Hum Genet. 2012 Nov 21. doi: 10.1038/ejhg.2012.252. [Epub ahead of print] 2012
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| 4 | DEL9Q22, DUP9Q, PTCH1
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| Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features.
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| Izumi K, Hahn A, Christ L, Curtis C, Neilson DE.
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| Am J Med Genet A 155(6):1384-9. doi: 10.1002/ajmg.a.33959. Epub 2011 May 12. 2011
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| 5 | DEL9Q22, PTCH1
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| Clinical features of microdeletion 9q22.3 (pat).
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| Shimojima K, Adachi M, Tanaka M, Tanaka Y, Kurosawa K, Yamamoto T.
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| Clin Genet 75(4):384-393 2009
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| 6 | DEL9Q22, PTCH1
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| Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome.
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| de Ravel TJ, Ameye L, Ballon K, Borghgraef M, Vermeesch JR, Devriendt K.
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| Eur J Med Genet 52(2-3):145-7. Epub 2009 Feb 21. 2009
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| 7 | DEL15Q13, DEL15Q24, DEL16P12, DEL17Q21, DEL1Q41, DEL2P15, DEL9Q22, DUP17Q21
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| Novel microdeletion syndromes detected by chromosome microarrays.
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| Slavotinek AM.
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| Hum Genet May 30. [Epub ahead of print] 2008
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| 8 | DEL9Q22, NBCCS2, PTCH1, ROR2
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| A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH.
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| Nowakowska B, Kutkowska-Kazmierczak A, Stankiewicz P, Bocian E, Obersztyn E, Ou Z, Cheung SW, Cai WW.
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| Am J Med Genet A 143(16):1885-9. 2007
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| 9 | DEL9Q22, NBCCS2, PTCH1, ROR2
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| Perinatal findings and molecular cytogenetic analyses of de novo interstitial deletion of 9q (9q22.3-->q31.3) associated with Gorlin syndrome.
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| Chen CP, Lin SP, Wang TH, Chen YJ, Chen M, Wang W.
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| Prenat Diagn 26(8):725-9. 2006
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| 10 | DEL9Q22
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| Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome.
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| Redon R, Baujat G, Sanlaville D, Le Merrer M, Vekemans M, Munnich A, Carter NP, Cormier-Daire V, Colleaux L.
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| Eur J Hum Genet 14(6):759-67. 2006
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| 11 | DEL9Q22, NBCCS2, PTCH1, ROR2
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| Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome.
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| Boonen SE, Stahl D, Kreiborg S, Rosenberg T, Kalscheuer V, Larsen LA, Tommerup N, Brondum-Nielsen K, Tumer Z.
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| Am J Med Genet A 132(3):324-8. 2005
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| 12 | DEL9Q22, PTCH1, ROR2, NPS1
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| Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome.
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| Midro AT, Panasiuk B, Tumer Z, Stankiewicz P, Silahtaroglu A, Lupski JR, Zemanova Z, Stasiewicz-Jarocka B, Hubert E, Tarasow E, Famulski W, Zadrozna-Tolwinska B, Wasilewska E, Kirchhoff M, Kalscheuer V, Michalova K, Tommerup N.
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| Am J Med Genet A 124(2):179-91. Review. 2004
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| 13 | DEL9Q22, NBCCS2, PTCH1, ROR2
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| Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome.
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| Olivieri C, Maraschio P, Caselli D, Martini C, Beluffi G, Maserati E, Danesino C.
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| Eur J Pediatr 162(2):100-3. Epub 2002 Dec 10. 2003
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