Tuck-Muller C M, Varela M, Li S, Pridjian G, Chen H, Wertelecki W
Department of Medical Genetics, University of South Alabama, Mobile 36688-0002, USA.
Am J Med Genet. 1996 May 17;63(2):392-5. doi: 10.1002/(SICI)1096-8628(19960517)63:2<392::AID-AJMG13>3.0.CO;2-F.
Intrachromosomal rearrangements usually result from three of 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 in 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-->q 21.2::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.
