Interstitial chromosomal deletions at 22q11.2 and 7q11.23 are detected in
the vast majority of patients affected by CATCH 22 syndromes and the
Williams-Beuren syndrome, respectively. In a group of 15 Williams- Beuren
patients, we have shown previously that a large number of 7q11.23 deletions
occur in association with an interchromosomal rearrangement, indicative of
an unequal crossing-over event between the two homologous chromosomes 7. In
this study, we show that a similar mechanism also underlies the formation
of the 22q11.2 deletions associated with CATCH 22. In eight out of 10
families with a proband affected by CATCH 22, we were able to show that a
meiotic recombination had occurred at the critical deleted region based on
segregation analysis of grandparental haplotypes. The incidences of
crossovers observed between the closest informative markers, proximal and
distal to the deletion, were compared with the expected recombination
frequencies between the markers. A significant number of recombination
events occur at the breakpoint of deletions in CATCH 22 patients (P =
2.99x10(-7)). The segregation analysis of haplotypes in three- generation
families was also performed on an extended number of Williams-Beuren cases
(22 cases in all). The statistically significant occurrence of meiotic
crossovers (P = 4.45x10(-9)) further supports the previous findings. Thus,
unequal meiotic crossover events appear to play a relevant role in the
formation of the two interstitial deletions. The recurrence risk for
healthy parents in cases where such meiotic recombinations can be
demonstrated is probably negligible. Such a finding is in agreement with
the predominantly sporadic occurrence of the 22q11.2 and 7q11. 23
deletions. No parent-of-origin bias was observed in the two groups of
patients with regard to the origin of the deletion and to the occurrence of
inter- versus intrachromosomal rearrangements.
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