{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:37:25Z","timestamp":1760729845677},"reference-count":28,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,7,14]],"date-time":"2006-07-14T00:00:00Z","timestamp":1152835200000},"content-version":"vor","delay-in-days":4822,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[1993,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The combined use of qualitative and quantitative analysis of 11p13 polymorphic markers together with chromosomal in situ suppression hybridization (CISS) with biotin labeled probes mapping to 11p allowed us to characterize a complex rearrangement segregating in a family. We detected a pericentric intrachromosomal insertion responsible for recurrence of del(11)(p13p14) in the family: an insertion of band 11p13\u2010p14 carrying the genes for predisposition to Wilms' tumor, <jats:italic>WTI<\/jats:italic>, and for aniridia, <jats:italic>AN2<\/jats:italic>, into the long arm of chromosome 11 in 11q13\u2010q14. Asymptomatic balanced carriers were observed over three generations. Classical cytogenetics had failed to detect this anomaly in the balanced carriers, who were first considered to be somatic mosaics for del(11)(p13). Two of these women gave birth to children carrying a deleted chromosome 11, most likely resulting from the loss of the 11p13 band inserted in 11q. Although in both cases the deletion encompassed exactly the same maternally inherited markers, there was a wide variation in clinical expression. One child, with the karyotype 46,XY,del(11)(p13p14), presented the full\u2010blown WAGR syndrome with aniridia, mental retardation, Wilms' tumor, and pseudohermaphroditism, but also had proteinuria and glomerular sclerosis reminiscent of Drash syndrome. In contrast, the other one, a girl with the karyotype 46,XX,del(11)(p13), only had aniridia. Although a specific set of mutational sites has been observed in Drash patients, these findings suggest that the loss of one copy of the <jats:italic>WTI<\/jats:italic> gene can result in similar genital and kidney abnormalities. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gcc.2870070110","type":"journal-article","created":{"date-parts":[[2007,2,21]],"date-time":"2007-02-21T23:42:19Z","timestamp":1172101339000},"page":"57-62","source":"Crossref","is-referenced-by-count":11,"title":["Pericentric intrachromosomal insertion responsible for recurrence of del(11)(p13p14) in a family"],"prefix":"10.1002","volume":"7","author":[{"given":"Isabelle","family":"Henry","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Hoovers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernande","family":"Barichard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie\u2010Fran\u00e7oise","family":"Berth\u00e9as","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Puech","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabienne","family":"Prieur","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manfred","family":"Gessler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gail","family":"Bruns","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcel","family":"Mannens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudine","family":"Junien","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,7,14]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90601-A"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000131375"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/343774a0"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90690-G"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(89)90016-5"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90206-8"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(79)35425-2"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90372-Y"},{"key":"e_1_2_1_10_1","first-page":"155","article-title":"Parental origin of de novo constitutional deletions of chromosomal band 11p13","volume":"47","author":"Huff V","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000133171"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80817-7"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132726"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2294592"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00207032"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90134-Z"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273462"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/353431a0"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90194-4"},{"key":"e_1_2_1_20_1","unstructured":"PrieurF(1989) D\u00e9l\u00e9tion 11p13 r\u00e9currente dans une g\u00e9n\u00e9alogie avec expression phenotypique chez les deux enfants. Th\u00e8se de M\u00e9decine Universit\u00e9 de Saint\u2010Etienne 134p."},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/346194a0"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90600-J"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90284-6"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.14.5383"},{"key":"e_1_2_1_25_1","unstructured":"van HeyningenV JordanT MonoghanP HansonI FantesJ HastieND TonCCT SaundersG(1992) Isolation and characterization of a candidate gene for the aniridia locus AN2. 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