{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T21:00:54Z","timestamp":1790974854866,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,10,12]],"date-time":"2005-10-12T00:00:00Z","timestamp":1129075200000},"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":[[2005,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a familial partial trisomy 12q in a girl and her father both of whom have an unbalanced translocation, der(16)t(12;16)(q24.31;q24.3), resulting in trisomy 12q24.31\u2009\u2192\u2009qter and 16q subtelomere deletion. By comparing phenotypes of the girl and the father, we suggest that clinical features related to trisomy 12q24.31\u2009\u2192\u2009qter are mild development delays, mild mental retardation, broad forehead, simplified ear helices, small mouth, and thin lips. The mother who has a normal karyotype has moderate mental retardation and a facial appearance similar to the girl. Both the girl and the mother have distinctive short, curly, and kinky hair. We suspect a possible new syndrome in the maternal family with mental retardation and curly, kinky hair. Thus, this patient likely inherited two discreet conditions causing mental retardation. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30976","type":"journal-article","created":{"date-parts":[[2005,10,12]],"date-time":"2005-10-12T19:47:05Z","timestamp":1129146425000},"page":"361-364","source":"Crossref","is-referenced-by-count":9,"title":["A girl with partial trisomy 12q24.31 inherited from her father and a possible novel syndrome transmitted from her mother"],"prefix":"10.1002","volume":"138A","author":[{"given":"Liming","family":"Bao","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth K.","family":"Schorry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,10,12]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.2.161"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320620203"},{"key":"e_1_2_6_4_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_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070206"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb00844.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1973.tb00601.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.11.3.299"},{"key":"e_1_2_6_9_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 (Paris)"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199307000-00015"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/302998"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01876526"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320100408"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196307112690203"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.2.86"},{"key":"e_1_2_6_16_1","first-page":"987","article-title":"Characterization of three de novo derivative chromosomes 16 by \u201creverse chromosome painting\u201d and molecular analysis","volume":"52","author":"Rack KA","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250303"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.6.470"},{"key":"e_1_2_6_19_1","first-page":"xvii","volume-title":"Catalogue of unbalanced chromosome aberrations in man","author":"Schinzel A","year":"2001"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.22.1.73"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00369.x"},{"key":"e_1_2_6_22_1","first-page":"72","article-title":"16q subtelomeric deletion in proband with congenital malformations and mental retardation","volume":"34","author":"Vorsanova SG","year":"2000","journal-title":"Tsitol Genet"},{"key":"e_1_2_6_23_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.30976","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30976","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T21:37:22Z","timestamp":1697665042000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30976"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,10,12]]},"references-count":22,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2005,11]]}},"alternative-id":["10.1002\/ajmg.a.30976"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30976","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,10,12]]}}}