{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T21:00:56Z","timestamp":1790974856205,"version":"4.1.0"},"reference-count":50,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,8,18]],"date-time":"2003-08-18T00:00:00Z","timestamp":1061164800000},"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":[[2004,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Partial trisomy 12q and monosomy 12p lead to multiple malformation syndromes. Instead of trisomy 12q that has been reported as a clinically identifiable syndrome, monosomy 12p is characterized by a wide phenotypic spectrum. We report two cousins suffering from severe mental retardation, seizures, and dysmorphic features related to a trisomy 12q24.3\u2192qter and a monosomy 12p13\u2192pter resulting from a familial pericentric inversion of chromosome 12. In an attempt to improve the clinical delineation of these two syndromes, we compared our two patients with previous reports of these aneusomies. This review emphasizes the high frequency of familial translocations, including a breakpoint at 12q24 involved in trisomy 12q whereas monosomy 12p occurs most frequently de novo. Despite the poor specificity of the signs, this comparison allowed us to determine the clinical features present in more than 20% of patients with trisomy 12q or monosomy 12p. We particularly emphasize some consistent leading features of monosomy 12p, including microcephaly, dental, cardio\u2010vascular, extremity, and sensorial abnormalities, initially not reported as recurrent in this syndrome. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20450","type":"journal-article","created":{"date-parts":[[2004,1,27]],"date-time":"2004-01-27T09:00:29Z","timestamp":1075194029000},"page":"77-85","source":"Crossref","is-referenced-by-count":12,"title":["Two cousins with partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of the chromosome 12"],"prefix":"10.1002","volume":"125A","author":[{"given":"Clotilde","family":"Lagier\u2010Tourenne","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Ginglinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Alembik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"De Saint Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.O.","family":"Peter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Dulucq","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Jonveaux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Jeandidier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,8,18]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1007\/BF00273829","article-title":"A heritable fragile 12q24.13 segregating in a family with the fragile X chromosome","volume":"75","author":"Amarose A","year":"1987","journal-title":"Hum Genet"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.610305.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360324"},{"key":"e_1_2_6_5_1","first-page":"55","article-title":"A new case of partial monosomy 12,del(12)(p11.01\u219212.109), confirming the assignment of the lactico\u2010dehydrogenase B","volume":"28","author":"Boilly\u2010Dartigalongue B","year":"1985","journal-title":"Ann Genet"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00274687"},{"key":"e_1_2_6_7_1","first-page":"251","article-title":"Partial distal 12q trisomy","volume":"23","author":"De Muelenaere A","year":"1980","journal-title":"Ann Genet"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.1.70"},{"key":"e_1_2_6_9_1","first-page":"175","article-title":"A rare case of a liveborn with free, de novo and partial trisomy 12 and an unusual phenotype","volume":"40","author":"El\u2010Shanti H","year":"1997","journal-title":"Ann Genet"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278699"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00294923"},{"key":"e_1_2_6_12_1","first-page":"43","article-title":"Interstitial deletion of the short arm of chromosome 12. Report of a new patient and review of the literature","volume":"33","author":"Fryns JP","year":"1990","journal-title":"Ann Genet"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2000.570513.x"},{"key":"e_1_2_6_14_1","first-page":"129","article-title":"Pericentric inversions in man. A French collaborative study","volume":"29","author":"Groupe de Cytog\u00e9n\u00e9ticiens Fran\u00e7ais","year":"1986","journal-title":"Ann Genet"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00220542"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070206"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb00844.x"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1973.tb00601.x"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.11.3.299"},{"key":"e_1_2_6_20_1","first-page":"625","article-title":"Partial 12q trisomy and chylothorax","volume":"22","author":"Houfflin V","year":"1993","journal-title":"J Gynecol Obstet Biol Reprod"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320180204"},{"key":"e_1_2_6_22_1","first-page":"231","article-title":"Prenatal detection of pericentric inversion of chromosome 12","volume":"2","author":"Kim HJ","year":"1980","journal-title":"Diagn Gynecol Obstet"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220412"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284103"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320580110"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320090203"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.12.1.105"},{"key":"e_1_2_6_28_1","first-page":"275","article-title":"Une observation de deletion partielle du bras court du chromosome 12","volume":"233","author":"Malpuech G","year":"1975","journal-title":"Lyon Med"},{"key":"e_1_2_6_29_1","first-page":"59","article-title":"Localization of the human lactate 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_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240405"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320100408"},{"key":"e_1_2_6_32_1","first-page":"335","article-title":"Short arm deletion of chromosome 12","volume":"28","author":"Orye E","year":"1975","journal-title":"Humangenetik"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.22.3.222"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970010108"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.2.86"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00282007"},{"key":"e_1_2_6_37_1","first-page":"119","volume-title":"New chromosomal syndromes","author":"Prieur M","year":"1977"},{"key":"e_1_2_6_38_1","first-page":"189","article-title":"46,XX,\u221212,+der(12),rcp(3; 12)(p25.1; p13.31)pat karyotype in a girl. Probable subregional assignment of glyceraldehyde\u20103\u2010phosphate dehydrogenase locus to 12p13.1 by exclusion mapping","volume":"28","author":"Rivas F","year":"1985","journal-title":"Ann Genet"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.6.470"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.7.434"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1993.tb03869.x"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.22.1.73"},{"key":"e_1_2_6_43_1","first-page":"95","article-title":"Patial deletion of the short arm of chromosome 12(p11; p13)","volume":"18","author":"Tenconi R","year":"1975","journal-title":"Ann Genet"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00369.x"},{"key":"e_1_2_6_45_1","first-page":"147","article-title":"Interstitial deletion 12p13.1\u201013.3 in a mildly retarded infant with unilateral ectrodactyly","volume":"37","author":"Trautmann U","year":"1994","journal-title":"Ann Genet"},{"key":"e_1_2_6_46_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01915957"},{"key":"e_1_2_6_47_1","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1007\/BF00273851","article-title":"Prenatal diagnosis of a 46,XX,inv(12)pat\/47,XX,i(Xq),inv(12)pat","volume":"75","author":"Varela M","year":"1987","journal-title":"Hum Genet"},{"key":"e_1_2_6_48_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00290957"},{"key":"e_1_2_6_49_1","first-page":"A89","article-title":"Recombinant 12 resulting from a pericentric inversion of chromosome 12","volume":"41","author":"Watson J","year":"1987","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_50_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1998.tb03708.x"},{"key":"e_1_2_6_51_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.2.144"}],"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.20450","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20450","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T17:23:19Z","timestamp":1697649799000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20450"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,8,18]]},"references-count":50,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2004,2,15]]}},"alternative-id":["10.1002\/ajmg.a.20450"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20450","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,8,18]]}}}