A complex five breakpoint intrachromosomal rearrangement ascertained through two recombinant offspring.
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.
Tuck-Muller
C M
CM
Department of Medical Genetics, University of South Alabama, Mobile 36688-0002, USA.
Varela
M
M
Li
S
S
Pridjian
G
G
Chen
H
H
Wertelecki
W
W
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