{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,5]],"date-time":"2026-03-05T23:20:13Z","timestamp":1772752813103,"version":"3.50.1"},"reference-count":37,"publisher":"Wiley","issue":"16","license":[{"start":{"date-parts":[[2007,7,13]],"date-time":"2007-07-13T00:00:00Z","timestamp":1184284800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The underlying genetic cause of mental retardation (MR) remains unknown in about half of the cases. Recently, using whole genome array comparative genomic hybridization (array\u2010CGH), submicroscopic genetic imbalances have been detected in up to 20% of patients with an unexplained MR, dysmorphic features, and apparently normal karyotype. Here, we present a 12\u2010year\u2010old girl with features of basal cell nevus syndrome (BCNS), pulmonary valve stenosis, and MR, in whom array\u2010CGH identified a 7.7 Mb deletion on 9q22.1\u2013q22.32. The deleted region includes, among others, the<jats:italic>ROR2<\/jats:italic>and<jats:italic>PTCH<\/jats:italic>genes. Haploinsufficiency of<jats:italic>PTCH<\/jats:italic>causes the BCNS syndrome and mutations in<jats:italic>ROR2<\/jats:italic>have been found in an autosomal recessive Robinow syndrome and a dominantly inherited brachydactyly type 1B. We speculate that haploinsufficiency of<jats:italic>ROR2<\/jats:italic>may contribute to pulmonary valve stenosis. Because of an age\u2010dependent penetrance, BCNS may be challenging for diagnosis particularly when the features are not part of a typical clinical spectrum of BCNS. Early diagnosis of BCNS is important for preventing the development of associated tumors and better care of the patient. Our data confirm the previous observations that application of the whole genome array\u2010CGH should be considered in selected patients with undiagnosed MR and dysmorphic features. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31845","type":"journal-article","created":{"date-parts":[[2007,7,13]],"date-time":"2007-07-13T22:30:53Z","timestamp":1184365853000},"page":"1885-1889","source":"Crossref","is-referenced-by-count":23,"title":["A girl with deletion 9q22.1\u2013q22.32 including the<i>PTCH<\/i>and<i>ROR2<\/i>genes identified by genome\u2010wide array\u2010CGH"],"prefix":"10.1002","volume":"143A","author":[{"given":"Beata","family":"Nowakowska","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Kutkowska\u2010Ka\u017amierczak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pawe\u0142","family":"Stankiewicz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ewa","family":"Bocian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ewa","family":"Obersztyn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhishuo","family":"Ou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sau Wai","family":"Cheung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei\u2010Wen","family":"Cai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,7,13]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10233"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980526)77:4<332::AID-AJMG16>3.0.CO;2-J"},{"key":"e_1_2_6_4_1","first-page":"215","article-title":"Reliability and validation of ratio developmental quotients from the Cattell Infant Intelligence Scale","volume":"95","author":"Atkinson L","year":"1990","journal-title":"Am J Ment Retard"},{"key":"e_1_2_6_5_1","first-page":"1","volume-title":"Treasury of human inheritance","author":"Bell J","year":"1951"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30422"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt0402-393"},{"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":"10.1097\/00005792-198703000-00002"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2143(99)90092-6"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196005052621803"},{"key":"e_1_2_6_12_1","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1093\/oso\/9780195118612.001.0001","volume-title":"Syndromes of the head and neck","author":"Gorlin RJ","year":"2001"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81268-4"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.2004.01590.x"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.cco.0000154108.99236.ed"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.272.5268.1668"},{"key":"e_1_2_6_17_1","first-page":"252","article-title":"Extract from a letter from Mr. L. to Dr Kellie. 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