{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T15:55:35Z","timestamp":1792079735154,"version":"4.4.0"},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2010,1,25]],"date-time":"2010-01-25T00:00:00Z","timestamp":1264377600000},"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":[[2010,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The 3p deletion syndrome is a rare disorder caused by deletions of different sizes in the 3p25\u2010pter region. It is characterized by growth retardation, developmental delay, mental retardation, dysmorphism, microcephaly, and ptosis. The phenotype of individuals with deletions varies from normal to severe. Most cases occur de novo, but a few familial cases have been reported. We describe two families with terminal 3p deletions and extremely variable clinical features. In family A, the mother and daughter were extremely mildly affected whereas the son had more severe clinical features. In family B, the mother was normal and her son was affected, having some symptoms that had not been described in the 3p deletion syndrome before. The deletions were characterized by genome\u2010wide SNP array analysis and were 9 and 1.1\u2009Mb in size. Sequencing analysis of the <jats:italic>CHL1<\/jats:italic>, <jats:italic>CNTN4<\/jats:italic>, and <jats:italic>CRBN<\/jats:italic> genes did not reveal any masked recessive alleles that might explain the more severe phenotypes in the probands. In family A, the 9\u2009Mb deletion can be considered causal for the 3p deletion syndrome in the proband, but the extremely mild phenotype in the other family members remains unexplained. In family B, the 1.1\u2009Mb terminal deletion encompasses only the <jats:italic>CHL1<\/jats:italic> gene, which is insufficient to cause 3p deletion symptoms; thus the clinical features observed in this family may have a different cause. The variable penetrance of 3p deletions creates challenges in genetic counseling, as the phenotype of the offspring cannot be predicted based on chromosomal and\/or genome\u2010wide array analytical findings. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33215","type":"journal-article","created":{"date-parts":[[2010,1,25]],"date-time":"2010-01-25T19:32:04Z","timestamp":1264447924000},"page":"441-446","source":"Crossref","is-referenced-by-count":45,"title":["Terminal 3p deletions in two families\u2014Correlation between molecular karyotype and phenotype"],"prefix":"10.1002","volume":"152A","author":[{"given":"Pia","family":"Pohjola","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"de Leeuw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maila","family":"Penttinen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena","family":"K\u00e4\u00e4ri\u00e4inen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,1,25]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.026955"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32387"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10323"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/491719"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32216"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31487"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.10.842"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg165"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/dnares\/dsm002"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-5876(00)00409-2"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.12.994"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31902"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350225"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.6.903"},{"key":"e_1_2_7_16_1","first-page":"365","volume-title":"Bioinformatics methods and protocols: Methods in molecular biology","author":"Rozen S","year":"2000"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31066"},{"key":"e_1_2_7_18_1","first-page":"301","article-title":"Deletion 3p25 in a mother and child","volume":"71","author":"Sklower\u2010Brooks S","year":"2002","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31325"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390203"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1978.02120260045012"}],"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.33215","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33215","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T22:56:50Z","timestamp":1698793010000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33215"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,1,25]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2010,2]]}},"alternative-id":["10.1002\/ajmg.a.33215"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33215","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,1,25]]}}}