{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T20:18:55Z","timestamp":1791317935909,"version":"4.3.1"},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2008,1,17]],"date-time":"2008-01-17T00:00:00Z","timestamp":1200528000000},"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":[[2008,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Deletions of chromosome bands 13q33\u201334 are rare. Patients with such deletions have mental retardation, microcephaly, and distinct facial features. Male patients frequently also have genital malformations. We report on four patients with three overlapping deletions of 13q33\u201334 that have been characterized by tiling\u2010path array\u2010CGH. Patient 1 had mental retardation and microcephaly with an interstitial 4.7 Mb deletion and a translocation t(12;13)(q13.3;q32.3). His mother (Patient 2), who also had mental retardation and microcephaly, carried the identical chromosome aberration. Patient 3 was a girl with a de novo insertion ins(7;13)(p15.1;q22q31) and interstitial 4.5 Mb deletion in 13q33\u201334. She had mental retardation and microcephaly. Patient 4 was a newborn boy with severe genital malformation (penoscrotal transposition and hypospadias) and microcephaly. He had a de novo ring chromosome 13 lacking the terminal 9.3 Mb of 13q. Karyotype\u2013phenotype comparisons of these and eight previously published del13q33\u201334 patients suggest <jats:italic>EFNB2<\/jats:italic> as a candidate gene for genital malformations in males. Molecular cytogenetic definition of a common deleted region in all patients suggests <jats:italic>ARHGEF7<\/jats:italic> as a candidate gene for mental retardation and microcephaly. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32127","type":"journal-article","created":{"date-parts":[[2008,1,18]],"date-time":"2008-01-18T00:00:15Z","timestamp":1200614415000},"page":"337-342","source":"Crossref","is-referenced-by-count":61,"title":["Chromosome deletions in 13q33\u201334: Report of four patients and review of the literature"],"prefix":"10.1002","volume":"146A","author":[{"given":"Joanna","family":"Walczak\u2010Sztulpa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marzena","family":"Wisniewska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Latos\u2010Bielenska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"Linn\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Kelbova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Britta","family":"Belitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lutz","family":"Pfeiffer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vera","family":"Kalscheuer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fikret","family":"Erdogan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas W.","family":"Kuss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans\u2010Hilger","family":"Ropers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reinhard","family":"Ullmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Tzschach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,1,17]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.043059"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450115"},{"key":"e_1_2_8_4_1","first-page":"859","article-title":"The 13q\u2010syndrome: The molecular definition of a critical deletion region in band 13q32","volume":"57","author":"Brown S","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-6-85"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000095921"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971031)72:3<319::AID-AJMG13>3.0.CO;2-W"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.1184-04.2004"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/80002"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30024"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000320)91:3<227::AID-AJMG14>3.0.CO;2-I"},{"key":"e_1_2_8_12_1","first-page":"33","article-title":"Two cases of terminal deletion of chromosome 13: Clinical features, conventional and molecular cytogenetic analysis","volume":"42","author":"Luquet I","year":"1999","journal-title":"Ann Genet"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1034399"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2004.09.006"},{"key":"e_1_2_8_15_1","first-page":"209","article-title":"A patient with 13q\u2010syndrome with mild mental retardation and with growth retardation","volume":"41","author":"Stoll C","year":"1998","journal-title":"Ann Genet"},{"key":"e_1_2_8_16_1","first-page":"189","article-title":"Del (13) (q33). 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