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Prenatal chromosome studies revealed nearly complete trisomy 15 due to a de novo unbalanced translocation t(X;15)(q22;q11.2) confirmed postnatally. A mild phenotype was observed with normal birth measurements, minor facial dysmorphic features (hypertelorism, short broad nose, and a relatively long philtrum), and moderate developmental delay at the age of 3 years in comparison to her male fraternal twin. Replication timing utilizing BrdU and acridine\u2010orange staining showed that the der(X) chromosome was late\u2010replicating with variable spreading of inactivation into the translocated 15q segment. The der(X) was determined to be of paternal origin by analyses of polymorphic markers and CGG\u2010repeat at <jats:italic>FMR1<\/jats:italic>. Methylation analysis at the <jats:italic>SNRPN<\/jats:italic> locus and analysis of microsatellites on 15q revealed paternal isodisomy with double dosage for all markers and the unmethylated <jats:italic>SNRPN<\/jats:italic> gene. The Xq breakpoint was mapped within two overlapping BAC clones RP11\u2010575K24 and RP13\u2010483F6 at Xq22.3 and the 15q breakpoint to 15q11.2, within overlapping clones RP11\u2010509A17 and RP11\u2010382A4 that are all significantly enriched for LINE\u20101 elements (36.6%, 43.0%, 26.6%, 22.0%, respectively). We speculate that the attenuated phenotype may be due to inactivation spreading into 15q, potentially facilitated by the enrichment of LINE\u20101 elements at the breakpoints. In silico analysis of breakpoint regions revealed the presence of highly identical low\u2010copy repeats (LCRs) at both breakpoints, potentially involved in generating the translocation. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31096","type":"journal-article","created":{"date-parts":[[2006,2,9]],"date-time":"2006-02-09T22:27:36Z","timestamp":1139524056000},"page":"442-452","source":"Crossref","is-referenced-by-count":25,"title":["Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation"],"prefix":"10.1002","volume":"140A","author":[{"given":"Pawe\u0142","family":"Stankiewicz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alma","family":"Kuechler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. 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