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- W2019430215 abstract "We describe the family of a balanced translocation carrier mother with the karyotype 46,XX,t(5,14)(p15,q13). In two of her five children 1:3 segregation occurred, resulting in del (14q) and dup (14q). The propositus with the dup (14q) has some of the typical manifestations of this syndrome and coloboma of the iris O.U." @default.
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- W2019430215 date "1982-05-01" @default.
- W2019430215 modified "2023-10-18" @default.
- W2019430215 title "3:1 Meiotic disjunction in a mother with a balanced translocation, 46,XX,t(5,14)(p15;q13) resulting in tertiary trisomy and tertiary monosomy offspring" @default.
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- W2019430215 doi "https://doi.org/10.1002/ajmg.1320120111" @default.
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