{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T07:00:04Z","timestamp":1778914804113,"version":"3.51.4"},"reference-count":42,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,6,13]],"date-time":"2003-06-13T00:00:00Z","timestamp":1055462400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Polish grant of Medical University Bia\u0142ystok","award":["AMB No 3-06 668"],"award-info":[{"award-number":["AMB No 3-06 668"]}]},{"name":"Czech","award":["GACR 301-01-0200"],"award-info":[{"award-number":["GACR 301-01-0200"]}]},{"name":"Deutches Bundesministerium f\u00fcr Bildung, Wissenschaft, Forschung und Technologie","award":["01KW99087"],"award-info":[{"award-number":["01KW99087"]}]},{"name":"Nationales Genomforschungsnetz-Umweltbedingte Erkranungen","award":["01GS0121"],"award-info":[{"award-number":["01GS0121"]}]},{"name":"EU-Commission","award":["BMH4-CT97-2268"],"award-info":[{"award-number":["BMH4-CT97-2268"]}]},{"name":"EU-Commission","award":["QL62-CT-2001-02161"],"award-info":[{"award-number":["QL62-CT-2001-02161"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,1,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The phenotype of Gorlin\u2013Goltz syndrome or basal cell nevus syndrome (BCNS, #109400, OMIM), a Mendelian trait due to <jats:italic>PTCH<\/jats:italic> mutations has been reported in a few cases of interstitial deletion of chromosome 9q. We present an 11\u2010year\u2010old girl with clinical features consistent with BCNS including bridging of sella turcica, biparietal bossing, downward slanting palpebral fissures, mandible prognathism, pectus excavatum, thumb abnormalities, occult spina bifida at L5\u2010S4, numerous basal cell nevi, and single basal cell carcinoma. Cytogenetic analysis using high\u2010resolution banding techniques and fluorescence in situ hybridization (FISH) revealed interstitial chromosome deletion 9q22.32\u2010q33.2 involving the <jats:italic>PTCH<\/jats:italic> gene as a secondary breakage event to a chromosome translocation t(9;17)(q34.1;p11.2)mat. Further FISH studies showed the translocation breakpoint on 9q34.11 maps proximal to <jats:italic>ABL<\/jats:italic>, between the BAC clone RP11\u201088G17 and the <jats:italic>LMX1B<\/jats:italic> gene. The latter gene encodes a transcription factor, in which loss of function mutations are responsible for the nail\u2010patella syndrome (NPS, #161200 OMIM). Interestingly, some features of our proband (e.g., bilateral patellar dysplasia and abnormal 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\u2010Magenis syndrome common deletion region, within two overlapping BAC clones, CTD\u20102354J3 and RP11\u2010311F12. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20367","type":"journal-article","created":{"date-parts":[[2003,12,25]],"date-time":"2003-12-25T09:00:29Z","timestamp":1072342829000},"page":"179-191","source":"Crossref","is-referenced-by-count":36,"title":["Interstitial deletion 9q22.32\u2010q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin\u2013Goltz syndrome and features of Nail\u2010Patella syndrome"],"prefix":"10.1002","volume":"124A","author":[{"given":"Alina T.","family":"Midro","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Panasiuk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zeynep","family":"T\u00fcmer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pawe\u0142","family":"Stankiewicz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asli","family":"Silahtaroglu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James R.","family":"Lupski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zuzana","family":"Zemanova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beata","family":"Stasiewicz\u2010Jarocka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ewa","family":"Hubert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eugeniusz","family":"Taras\u00f3w","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Waldemar","family":"Famulski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Zadro\u017cna\u2010To\u0142wi\u0144ska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ewa","family":"Wasilewska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie","family":"Kirchhoff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vera","family":"Kalscheuer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyra","family":"Michalova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niels","family":"Tommerup","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,6,13]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.7.610"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.73702"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/bjc.1997.354"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200155"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.6.460"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1994.1528"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb03078.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(92)90122-S"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0933-3657(94)90056-6"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-198703000-00002"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196005052621803"},{"key":"e_1_2_6_13_1","volume-title":"Syndromes of the head and neck. 3rd edition. Multiple nevoid basal cell carcinoma syndrome","author":"Gorlin RJ","year":"1990"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81268-4"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(50)90636-2"},{"key":"e_1_2_6_16_1","unstructured":"http:\/\/genome.ucsc.edu."},{"issue":"2","key":"e_1_2_6_17_1","first-page":"99","article-title":"Progenia u dziewczynki z cz\u0119\u015bciow\u0105 monosomi\u0105 9q w kariotypie i rodzinn\u0105 translokacj\u0105 chromosomow\u0105 wzajemn\u0105 t(9;17)(q34.1;p11.2) (Prognathism of mandible in a girl with the partial monosomy 9q and familial reciprocal chromosome translocation t(9;17)(q34.1;p11.2) in her karyotype)","volume":"52","author":"Hubert E","year":"1999","journal-title":"Czas Stom"},{"key":"e_1_2_6_18_1","volume-title":"An International System for Human Cytogenetic Nomenclature","author":"ISCN","year":"1995"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.272.5268.1668"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970331)69:3<299::AID-AJMG16>3.0.CO;2-M"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0320(19980301)31:3<163::AID-CYTO3>3.0.CO;2-M"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.10.1611"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970211)68:4<409::AID-AJMG7>3.0.CO;2-G"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.2.156"},{"key":"e_1_2_6_25_1","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1097\/00003086-198901000-00017","article-title":"Shoulder girdle dysplasia associated with nail\u2010patella syndrome. A case report and literature review","volume":"238","author":"Loomer LR","year":"1989","journal-title":"Clin Orthop Rel Res"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(66)80159-2"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0223(200010)20:10<855::AID-PD919>3.0.CO;2-Z"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0560.1986.tb01510.x"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.4.282"},{"issue":"4","key":"e_1_2_6_30_1","first-page":"274","article-title":"Interstitial deletion of the long arm of chromosome 9","volume":"49","author":"Robb LJ","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_31_1","first-page":"49","article-title":"A nevoid basal cell carcinoma syndrome with chromosomal aberration","volume":"32","author":"Sasaki K","year":"2000","journal-title":"No To Hattatsu"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320510211"},{"key":"e_1_2_6_33_1","article-title":"Interstitial deletion of the 9q22q32 region causes a distinct syndrome","author":"Sekhon G","year":"1982","journal-title":"Unpublished abstract"},{"key":"e_1_2_6_34_1","first-page":"417","article-title":"Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients","volume":"59","author":"Shimkets R","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200260"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1086\/374385"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291355"},{"key":"e_1_2_6_38_1","first-page":"51","article-title":"The fragile\u2010X phenotype computer assisted analysis of the dysmorphological features and discrimination from the Sotos phenotype","volume":"14","author":"Stengel\u2010Rutkowski S","year":"1993","journal-title":"Genet Counsel"},{"issue":"4","key":"e_1_2_6_39_1","first-page":"234","article-title":"Deletions intercalaires de 9q","volume":"21","author":"Turleau C","year":"1978","journal-title":"Ann Genet"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1933.02740120020008"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.14.6.455"},{"key":"e_1_2_6_42_1","first-page":"115","article-title":"A dicentric recombinat 9 derived from a paracentric inversion: Phenotype, cytogenetics, and molecular analysis of centromeres","volume":"44","author":"Worsham MJ","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.19.1.68"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.20367","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20367","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T23:52:28Z","timestamp":1697673148000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20367"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,6,13]]},"references-count":42,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,1,15]]}},"alternative-id":["10.1002\/ajmg.a.20367"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20367","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,6,13]]}}}