{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T03:11:30Z","timestamp":1779160290207,"version":"3.51.4"},"reference-count":16,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2010,4,13]],"date-time":"2010-04-13T00:00:00Z","timestamp":1271116800000},"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":[[2010,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on the diagnosis of a 17p13.1 deletion in a 10\u2010year\u2010old boy. The patient presented with mild developmental delay, facial dysmorphism, joint hyperlaxity, pes planus, hypermetropia, hearing loss, and achromic patches following the Blaschko's lines on the right part of the thorax. Chromosome R\u2010banding was normal. Array CGH using a 244\u2009K oligonucleotide array showed a homogeneous de novo 17p13.1 microdeletion of 400\u2009kb involving <jats:italic>TP53<\/jats:italic> and 25 other genes, including genes involved in brain function (<jats:italic>EFNB3<\/jats:italic>, <jats:italic>FXR2<\/jats:italic>). To our knowledge, six patients presenting with a constitutional 17p13.1 microdeletion involving the <jats:italic>TP53<\/jats:italic> gene have been reported. We discuss the phenotype of this microdeletion and the genetic counseling issues, especially regarding the risk of cancer associated with the deletion of the <jats:italic>TP53<\/jats:italic> gene. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33316","type":"journal-article","created":{"date-parts":[[2010,4,13]],"date-time":"2010-04-13T20:35:18Z","timestamp":1271190918000},"page":"1278-1282","source":"Crossref","is-referenced-by-count":20,"title":["17p13.1 microdeletion involving the <i>TP53<\/i> gene in a boy presenting with mental retardation but no tumor"],"prefix":"10.1002","volume":"152A","author":[{"given":"Caroline","family":"Schluth\u2010Bolard","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Damien","family":"Sanlaville","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Audrey","family":"Labalme","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marianne","family":"Till","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Morin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renaud","family":"Touraine","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Edery","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,4,13]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2008.07.045"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.9.081307.164207"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.25"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.057570"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.26"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000218743"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1079641"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81871-1"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-71-4-747"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1978757"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2007.12.003"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.064972"},{"key":"e_1_2_8_14_1","first-page":"S11","article-title":"DNA copy number variation and cancer susceptibility: The Li\u2010Fraumeni syndrome paradigm","volume":"17","author":"Shlien A","year":"2009","journal-title":"Chromosome Res"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl121"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2007.04.009"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1995.tb00220.x"}],"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.33316","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33316","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T13:40:33Z","timestamp":1697636433000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33316"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,4,13]]},"references-count":16,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2010,5]]}},"alternative-id":["10.1002\/ajmg.a.33316"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33316","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,4,13]]}}}