{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:23Z","timestamp":1761717983473},"reference-count":24,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,1,12]],"date-time":"2006-01-12T00:00:00Z","timestamp":1137024000000},"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":[[2006,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A male patient with mental retardation (MR) and mild facial features was shown by high\u2010resolution G\u2010banding to have pericentric inversion of chromosome 12 with an unknown segment inserted into the long arm of the inverted chromosome [46,XY,inv(12)(pter\u2009\u2192\u2009p11.2::q14.1\u2009\u2192\u2009p11.2::?::q14.1\u2009\u2192\u2009qter)]. Both the inverted chromosome 12 and clinical manifestations were transmitted to his son. Karyotypes of the propositus' parents were normal. Studies with fluorescence in situ hybridization (FISH) in both the propositus and his son revealed that the extra segment was derived from 12p. Further FISH mapping and the genome\u2010wide copy number detection by GeneChip Mapping 100K Array showed that an 11\u2010Mb segment of 12p between two BAC clones, RP11\u201022H10 and RP11\u2010977P2, was inserted at one of the reunion points in the long arm of the inv(12) chromosome. Analysis of parent\u2013child transmissions of duplicated alleles using microsatellite markers defined the maternal origin of the chromosomal anomaly in the propositus and suggested a mechanism of its formation through a sister\u2010chromatid rearrangement (SCR), that is, mismatched pairing and unequal crossover between sister chromatids as well as three break rearrangements including a U type rearrangement. Karyotypes of the propositus and his son were thus inv(12)(pter\u2009\u2192\u2009p11.22::q14.1\u2009\u2192\u2009p12.3::q14.1\u2009\u2192\u2009qter). This is the first report of \u201cpure\u201d proximal 12p\u2010trisomy including p12.3\u2013p11.22 region. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31077","type":"journal-article","created":{"date-parts":[[2006,1,12]],"date-time":"2006-01-12T21:49:38Z","timestamp":1137102578000},"page":"238-244","source":"Crossref","is-referenced-by-count":8,"title":["A father and son with mental retardation, a characteristic face, inv(12), and insertion trisomy 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