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The difference in clinical features observed in these patients indicates that there is no distinct phenotype associated with this short arm deletion, although the existence of a del(12p) syndrome was previously suggested. Besides those 12 reports, only two patients have been described with a subtelomeric 12p deletion; both present in the same family in which the son showed a mild phenotype of moderate mental retardation and behavioral problems and his carrier mother had no apparent phenotype. In this article, we describe the third known patient with a subtelomeric 12p deletion in a young boy with mental retardation and microcephaly, and review the literature. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33401","type":"journal-article","created":{"date-parts":[[2010,5,14]],"date-time":"2010-05-14T22:17:31Z","timestamp":1273875451000},"page":"1561-1566","source":"Crossref","is-referenced-by-count":18,"title":["Subtelomeric deletion of 12p: Description of a third case and review"],"prefix":"10.1002","volume":"152A","author":[{"given":"A.H.","family":"MacDonald","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Rodr\u00edguez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Ace\u00f1a","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.L.","family":"Mart\u00ednez\u2010Fern\u00e1ndez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"S\u00e1nchez\u2010Izquierdo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Zuazo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.L.","family":"Mart\u00ednez\u2010Fr\u00edas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,5,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.610305.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360324"},{"key":"e_1_2_6_4_1","first-page":"55","article-title":"Etude d'un noveau cas de monosomie partielle du chromosome 12,del(12)(p11.01\u2010p12.109) confirmant la localisation du gene de la lactico\u2010deshydrogenase B","volume":"28","author":"Boilly\u2010Dartigalongue B","year":"1985","journal-title":"Ann Genet"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/352251a0"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0295-132"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220412"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(99)03070-6"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/420795"},{"key":"e_1_2_6_10_1","first-page":"231","article-title":"Monosomie partielle d'un chromosome du groupe C: (Cp\u2010)","volume":"11","author":"Laurent C","year":"1968","journal-title":"Ann Genet"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.12.1.105"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320090203"},{"key":"e_1_2_6_13_1","first-page":"275","article-title":"Une observation de deletion partielle du bras court du chromosome 12","volume":"233","author":"Malpeuch G","year":"1975","journal-title":"Lyon M\u00e9d Genet"},{"key":"e_1_2_6_14_1","first-page":"59","article-title":"Localization of the human lactase dehydrogenase B gene on the short arm of chromosome 12","volume":"26","author":"Mayeda K","year":"1974","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi187"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284808"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036350"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e3282efef43"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.7.434"},{"key":"e_1_2_6_20_1","first-page":"95","article-title":"Partial deletion of the short arm of chromosome 12(p11; p13). 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