title: A complex five breakpoint intrachromosomal rearrangement ascertained through two recombinant offspring.
abstract: 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.
authors.affiliation: Department of Medical Genetics, University of South Alabama, Mobile 36688-0002, USA.
authors.forename: C M
authors.initials: CM
authors.lastname: Tuck-Muller
authors.forename: M
authors.initials: M
authors.lastname: Varela
authors.forename: S
authors.initials: S
authors.lastname: Li
authors.forename: G
authors.initials: G
authors.lastname: Pridjian
authors.forename: H
authors.initials: H
authors.lastname: Chen
authors.forename: W
authors.initials: W
authors.lastname: Wertelecki
mesh_terms: D002648:Child; D019457:Chromosome Breakage; D002879:Chromosomes, Human, Pair 10; D005260:Female; D015321:Gene Rearrangement; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D011995:Recombination, Genetic