American Journal of Medical Genetics 124A:179–191 (2004) Clinical Report 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 Alina T. Midro, 1 * Barbara Panasiuk, 1 Zeynep Tu ¨ mer, 2 Pawel Stankiewicz, 3 Asli Silahtaroglu, 2 James R. Lupski, 3,4,5 Zuzana Zemanova, 6 Beata Stasiewicz-Jarocka, 1 Ewa Hubert, 7 Eugeniusz Taraso ´ w, 8 Waldemar Famulski, 9 Barbara Zadroz ˙ na-Tolwin ´ ska, 1 Ewa Wasilewska, 10 Marie Kirchhoff, 11 Vera Kalscheuer, 12 Kyra Michalova, 6 and Niels Tommerup 2 1 Department of Clinical Genetics, Medical University Bialystok, Poland 2 Wilhelm Johannsen Centre for Functional Genome Research, Department of Medical Genetics, IMBG, The Panum Institute, University of Copenhagen, Denmark 3 Departments of Molecular & Human Genetics, Houston, Texas 4 Department of Pediatrics, Baylor College of Medicine, Houston, Texas 5 Department of Texas Children Hospital, Houston, Texas 6 Center of Oncocytogenetics, General Faculty Hospital, Prague, Czech Republic 7 Clinic of Maxillo-Facial Surgery, Medical University Bialystok, Poland 8 Department of Radiology, Medical University Bialystok, Poland 9 Department of Clinical Pathology, Medical University Bialystok, Poland 10 Clinic of Hematology, Medical University Bialystok, Poland 11 Cytogenetic Laboratory, Department of Clinical Genetics, Juliane Marie Centre, University Hospital, Copenhagen, Denmark 12 Max-Planck Institute of Molecular Genetics, Berlin, Germany The phenotype of Gorlin – Goltz syndrome or basal cell nevus syndrome (BCNS, #109400, OMIM), a Mendelian trait due to PTCH mutations has been reported in a few cases of interstitial deletion of chromosome 9q. We present an 11-year-old girl with clinical features consistent with BCNS including bridging of sella turcica, biparietal bos- sing, downward slanting palpebral fissures, mandible prognathism, pectus excavatum, thumb abnormalities, occult spina bifida at L5-S4, numerous basal cell nevi, and single basal cell carcinoma. Cytogenetic analysis using high-resolution banding techniques and fluorescence in situ hybridization (FISH) revealed interstitial chromosome deletion 9q22.32-q33.2 involving the PTCH gene as a secondary breakage event to a chromo- some translocation t(9;17)(q34.1;p11.2)mat. Further FISH studies showed the transloca- tion breakpoint on 9q34.11 maps proximal to ABL, between the BAC clone RP11-88G17 and the LMX1B gene. The latter gene encodes a transcription factor, in which loss of func- tion mutations are responsible for the nail- patella syndrome (NPS, #161200 OMIM). Interestingly, some features of our proband (e.g., bilateral patellar dysplasia and abnor- mal clavicular shape), as well as her healthy sister who carries the same translocation, are also found in patients with NPS. The chromosome 17p11.2 breakpoint maps in the Smith-Magenis syndrome common deletion Grant sponsor: Polish grant of Medical University Bialystok; Grant number: AMB No 3-06 668; Grant sponsor: Czech; Grant number: GACR 301-01-0200; Grant sponsor: Deutches Bundes- ministerium fu ¨ r Bildung, Wissenschaft, Forschung und Techno- logie; Grant number: 01KW99087; Grant sponsor: Nationales Genomforschungsnetz—Umweltbedingte Erkranungen; Grant number: 01GS0121; Grant sponsor: EU-Commission; Grant numbers: BMH4-CT97-2268, QL62-CT-2001-02161. *Correspondence to: Prof. Dr. Alina T. Midro, M.D., Ph.D., Department of Clinical Genetics, Medical University of Bialystok, Waszyngton str. 13, 15-089 Bialystok 8, PO Box 22, Poland. E-mail: midro@amb.edu.pl Received 17 January 2003; Accepted 22 April 2003 DOI 10.1002/ajmg.a.20367 ß 2003 Wiley-Liss, Inc.