Human Molecular Genetics, Vol 5, 1893-1898, Copyright © 1996 by Oxford University Press
F Dutly and A Schinzel
Williams-Beuren syndrome (WBS) is generally the consequence of an
interstitial microdeletion at 7q11.23, which includes the elastin gene,
thus causing hemizygosity at the elastin gene locus. The origin of the
deletion has been reported by many authors to be maternal in approximately
60% and paternal in 40% of cases. Segregation analysis of grandparental
markers flanking the microdeletion region in WBS patients and their parents
indicated that in the majority of cases a recombination between
grandmaternal and grandpaternal chromosomes 7 at the site of the deletion
had occurred during meiosis in the parent from whom the deleted chromosome
stemmed. Thus, the majority of deletions were considered a consequence of
unequal crossing-over between homologous chromosomes 7 (interchromosomal
rearrangement) while in the remaining cases an intrachromosomal
recombination (between the chromatids of one chromosome 7) may have
occurred. These results suggest that the majority of interstitial deletions
of the elastin gene region occur during meiosis, due to unbalanced
recombination while a minority could occur before or during meiosis
probably due to intrachromosomal rearrangements. The recurrence risk of the
interchromosomal rearrangements for sibs of a proband with non-affected
parents must be negligible, which fits well with the observation of
sporadic occurrence of almost all cases of WBS.
ARTICLES
Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome
Institut fur Medizinische Genetik, Universitat Zurich, Switzerland.
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