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 breaks or less. We report a complex intrachromosomal rearrangement resulting from at least five breakpoints in one chromosome 10 found in the phenotypically normal father of two developmentally delayed children. G-banding analysis of the father`s abnormal 10 suggested a rearrangement involving an initial pericentric inversion followed by an insertion from the short arm into the terminal band of the long arm. The inserted segment appeared to derive from both short arm material and long arm material resulting from the inversion. The father`s karyotype was interpreted as 46,XY, ins inv (10)(pter{r_arrow}p13::q21.2{r_arrow}p 12.2::q22.1{r_arrow}q26.3::q22.1{r_arrow}q21.2::p12.2{r_arrow}p13::q26.3{r_arrow}qter). To our knowledge, this rearrangement is the most complex reported within a single chromosome. Both children inherited a deleted version of the father`s rearranged chromosome 10 with loss of the insertion and the segment distal to the insertion [rec(10),del p,del q,ins inv(10)(pter{r_arrow}p13::q21.2{r_arrow}p 12.2::q22.1{r_arrow}q26.3)]. One cross-over in a complex pachytene configuration can account for the recombinant chromosome 10 in the children.
- OSTI ID:
- 133777
- Report Number(s):
- CONF-941009--
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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