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- W2023378250 abstract "Intrachromosomal rearrangements usually result from three or fewer breaks. We report a complex intrachromosomal rearrangement resulting from five breaks in one chromosome 10 of a phenotypically normal father of two developmentally delayed children. GTG-banding analysis of the father's rearranged chromosome 10 suggested an initial pericentric inversion followed by an insertion from the short arm into the terminal band of the long arm [der(10)(pter→p13::q21.2→p12.2::q22.1→q26.3::q22.1→q21.2::p12.2→p13::q26.3→qter)]. To our knowledge, this rearrangement is the most complex ever reported in a single chromosome. Both children inherited a recombinant chromosome 10 with loss of the insertion and the segment distal to it [rec(10)der(pter→p13::q21.2→p12.2::q22.1→q26.3:)]. Mechanisms for both rearrangements are proposed. © 1996 Wiley-Liss, Inc." @default.
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- W2023378250 date "1996-05-17" @default.
- W2023378250 modified "2023-10-18" @default.
- W2023378250 title "A complex, five breakpoint intrachromosomal rearrangement ascertained through two recombinant offspring" @default.
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- W2023378250 doi "https://doi.org/10.1002/(sici)1096-8628(19960517)63:2<392::aid-ajmg13>3.0.co;2-f" @default.
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