{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T16:47:44Z","timestamp":1781801264682,"version":"3.54.5"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,2,5]],"date-time":"2015-02-05T00:00:00Z","timestamp":1423094400000},"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":[[2015,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>The 10q26 deletion syndrome is a clinically heterogeneous disorder. The most common phenotypic characteristics include pre\u2010 and\/or postnatal growth retardation, microcephaly, developmental delay\/intellectual disability and a facial appearance consisting of a broad nasal bridge with a prominent nose, low\u2010set malformed ears, strabismus, and a thin vermilion of the upper lip. In addition, limb and cardiac anomalies as well as urogenital anomalies are occasionally observed. In this report, we describe three unrelated females with 10q26 terminal deletions who shared clinical features of the syndrome, including urogenital defects. Cytogenetic studies showed an apparently de novo isolated deletion of the long arm of chromosome 10, with breakpoints in 10q26.1, and subsequent oligo array\u2010CGH analysis confirmed the terminal location and defined the size of the overlapping deletions as \u223c13.46, \u223c9.31 and \u223c9.17\u2009Mb. We compared the phenotypic characteristics of the present patients with others reported to have isolated deletions and we suggest that small 10q26.2 terminal deletions may be associated with growth retardation, developmental delay\/intellectual disability, craniofacial features and external genital anomalies whereas longer terminal deletions affecting the 10q26.12 and\/or 10q26.13 regions may be responsible for renal\/urinary tract anomalies. We propose that the haploinsufficiency of one or several genes located in the 10q26.12\u2010q26.13 region may contribute to the renal or urinary tract pathogenesis and we highlight the importance of FGFR2 and probably of CTBP2 as candidate genes.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36949","type":"journal-article","created":{"date-parts":[[2015,2,6]],"date-time":"2015-02-06T04:08:19Z","timestamp":1423195699000},"page":"786-790","source":"Crossref","is-referenced-by-count":24,"title":["Clinical comparison of 10q26 overlapping deletions: Delineating the critical region for urogenital anomalies"],"prefix":"10.1002","volume":"167","author":[{"given":"Ascensi\u00f3n","family":"Vera\u2010Carbonell","sequence":"first","affiliation":[{"name":"Secci\u00f3n de Citogen\u00e9tica Centro de Bioqu\u00edmica y Gen\u00e9tica Cl\u00ednica Hospital Cl\u00ednico Universitario Virgen de la Arrixaca El Palmar Murcia Spain"},{"name":"Instituto Murciano de Investigaci\u00f3n Biosanitaria\u2010Arrixaca (IMIB\u2010Arrixaca)"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica de Red de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III (ISCIII) Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanesa","family":"L\u00f3pez\u2010Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Secci\u00f3n de Gen\u00e9tica M\u00e9dica Servicio de Pediatr\u00eda Hospital Cl\u00ednico Universitario Virgen de la Arrixaca El Palmar Murcia Spain"},{"name":"Instituto Murciano de Investigaci\u00f3n Biosanitaria\u2010Arrixaca (IMIB\u2010Arrixaca)"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica de Red de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III (ISCIII) Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Antonio","family":"Bafalliu","sequence":"additional","affiliation":[{"name":"Secci\u00f3n de Citogen\u00e9tica Centro de Bioqu\u00edmica y Gen\u00e9tica Cl\u00ednica Hospital Cl\u00ednico Universitario Virgen de la Arrixaca El Palmar Murcia Spain"},{"name":"Instituto Murciano de Investigaci\u00f3n Biosanitaria\u2010Arrixaca (IMIB\u2010Arrixaca)"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica de Red de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III (ISCIII) Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda J","family":"Ballesta\u2010Mart\u00ednez","sequence":"additional","affiliation":[{"name":"Secci\u00f3n de Gen\u00e9tica M\u00e9dica Servicio de Pediatr\u00eda Hospital Cl\u00ednico Universitario Virgen de la Arrixaca El Palmar Murcia Spain"},{"name":"Instituto Murciano de Investigaci\u00f3n Biosanitaria\u2010Arrixaca (IMIB\u2010Arrixaca)"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica de Red de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III (ISCIII) Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asunci\u00f3n","family":"Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Secci\u00f3n de Citogen\u00e9tica Centro de Bioqu\u00edmica y Gen\u00e9tica Cl\u00ednica Hospital Cl\u00ednico Universitario Virgen de la Arrixaca El Palmar Murcia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Encarna","family":"Guill\u00e9n\u2010Navarro","sequence":"additional","affiliation":[{"name":"Secci\u00f3n de Gen\u00e9tica M\u00e9dica Servicio de Pediatr\u00eda Hospital Cl\u00ednico Universitario Virgen de la Arrixaca El Palmar Murcia Spain"},{"name":"Instituto Murciano de Investigaci\u00f3n Biosanitaria\u2010Arrixaca (IMIB\u2010Arrixaca)"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica de Red de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III (ISCIII) Madrid Spain"},{"name":"C\u00e1tedra de Gen\u00e9tica M\u00e9dica UCAM\u2010Universidad Cat\u00f3lica de Murcia 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