A complex, five breakpoint intrachromosomal rearrangement ascertained through two recombinant offspring
- Univ. of South Alabama, Mobile, AL (United States); and others
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. 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. Mechanisms for both rearrangements are proposed. 7 refs., 2 figs.
- OSTI ID:
- 539193
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 2 Vol. 63; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
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