del(9)(q22.32q33.2)
Interstitial deletion 9q22.32-q33.2
constitutional t(9;17)(q34.11;p11.2) (14699618)
Associations
Gorlin syndrome or basal cell nevus syndrome (BCNS) (MIM.109400)
References
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. 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. Am J Med Genet A. 2004 Jan 15;124(2):179-91. PMID: 14699618