PubMed:30031150 JSONTXT

{"target":"http://pubannotation.org/docs/sourcedb/PubMed/sourceid/30031150","sourcedb":"PubMed","sourceid":"30031150","source_url":"https://www.ncbi.nlm.nih.gov/pubmed/30031150","text":"Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy.\nJacobsen syndrome refers to a congenital anomaly caused by deletion at 11q23.3-qter. We here describe two siblings with the same 11q23.3-qter deletion. Both parents were healthy with a normal karyotype. Cytogenetic microarray analysis revealed no mosaicism in either parent but the mother showed uniparental disomy encompassing the deleted region found in the two siblings. The pattern of X chromosome inactivation was almost completely skewed in the mother. These data suggested that the mother was a carrier of the 11q23.3-qter deletion but that this had been rescued by disomy formation during early embryogenesis except for her germinal cells.","tracks":[{"project":"AGAC_v3","denotations":[{"id":"T1","span":{"begin":104,"end":121},"obj":"Disease"},{"id":"T2","span":{"begin":153,"end":162},"obj":"Reg"},{"id":"T3","span":{"begin":163,"end":171},"obj":"Var"},{"id":"T4","span":{"begin":175,"end":187},"obj":"Gene"}],"relations":[{"id":"R3","pred":"ThemeOf","subj":"T4","obj":"T3"},{"id":"R2","pred":"ThemeOf","subj":"T1","obj":"T2"},{"id":"R1","pred":"CauseOf","subj":"T3","obj":"T2"}],"attributes":[{"subj":"T1","pred":"source","obj":"AGAC_v3"},{"subj":"T2","pred":"source","obj":"AGAC_v3"},{"subj":"T3","pred":"source","obj":"AGAC_v3"},{"subj":"T4","pred":"source","obj":"AGAC_v3"}]},{"project":"AGAC-FULL-201905","denotations":[{"id":"T1","span":{"begin":104,"end":121},"obj":"Disease"},{"id":"T2","span":{"begin":153,"end":162},"obj":"Reg"},{"id":"T3","span":{"begin":163,"end":171},"obj":"Var"},{"id":"T4","span":{"begin":175,"end":187},"obj":"Gene"}],"relations":[{"id":"R1","pred":"CauseOf","subj":"T3","obj":"T2"},{"id":"R2","pred":"ThemeOf","subj":"T1","obj":"T2"},{"id":"R3","pred":"ThemeOf","subj":"T4","obj":"T3"}],"attributes":[{"subj":"T1","pred":"source","obj":"AGAC-FULL-201905"},{"subj":"T2","pred":"source","obj":"AGAC-FULL-201905"},{"subj":"T3","pred":"source","obj":"AGAC-FULL-201905"},{"subj":"T4","pred":"source","obj":"AGAC-FULL-201905"}]},{"project":"AGAC2_PubMed7000","denotations":[{"id":"T1","span":{"begin":104,"end":121},"obj":"Disease"},{"id":"T2","span":{"begin":153,"end":162},"obj":"Reg"},{"id":"T3","span":{"begin":163,"end":171},"obj":"Var"},{"id":"T4","span":{"begin":175,"end":187},"obj":"Gene"}],"relations":[{"id":"R2","pred":"ThemeOf","subj":"T1","obj":"T2"},{"id":"R1","pred":"CauseOf","subj":"T3","obj":"T2"},{"id":"R3","pred":"ThemeOf","subj":"T4","obj":"T3"}],"attributes":[{"subj":"T1","pred":"source","obj":"AGAC2_PubMed7000"},{"subj":"T2","pred":"source","obj":"AGAC2_PubMed7000"},{"subj":"T3","pred":"source","obj":"AGAC2_PubMed7000"},{"subj":"T4","pred":"source","obj":"AGAC2_PubMed7000"}]},{"project":"AGAC_answer","denotations":[{"id":"T1","span":{"begin":104,"end":121},"obj":"Disease"},{"id":"T2","span":{"begin":153,"end":162},"obj":"Reg"},{"id":"T3","span":{"begin":163,"end":171},"obj":"Var"},{"id":"T4","span":{"begin":175,"end":187},"obj":"Gene"}],"relations":[{"id":"R1","pred":"CauseOf","subj":"T3","obj":"T2"},{"id":"R2","pred":"ThemeOf","subj":"T1","obj":"T2"},{"id":"R3","pred":"ThemeOf","subj":"T4","obj":"T3"}],"attributes":[{"subj":"T1","pred":"source","obj":"AGAC_answer"},{"subj":"T2","pred":"source","obj":"AGAC_answer"},{"subj":"T3","pred":"source","obj":"AGAC_answer"},{"subj":"T4","pred":"source","obj":"AGAC_answer"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"AGAC_v3","color":"#bbec93","default":true},{"id":"AGAC-FULL-201905","color":"#ec93d5"},{"id":"AGAC2_PubMed7000","color":"#93ece8"},{"id":"AGAC_answer","color":"#ecce93"}]}]}}