A complex, five breakpoint intrachromosomal rearrangement ascertained through two recombinant offspring

✍ Scribed by Tuck-Muller, Cathy M.; Varela, Maria; Li, Shibo; Pridjian, Gabriella; Chen, Harold; Wertelecki, Wladimir

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 20 KB
• Volume: 63
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19960517)63:2<392::aid-ajmg13>3.0.co;2-f

✦ Synopsis

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(lO) (pter+pl3.q21.2+p12.2.q22.l+q26.3.q22.l+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( lO)der(pter+pl3: :q2 1.2+~12.2::q22.1+q26.3:)