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The authors disagree with the previously reported diagnosis of an incomplete form of Williams-Beuren syndrome in a 27-month-old girl with an unbalanced de novo translocation.
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This commentary highlights diagnostic disagreements regarding atypical presentations of Williams-Beuren syndrome and chromosomal translocations.
Chromosome abnormalities and Williams-Beuren syndromeTelvi et al' recently reported on a 27 month old girl with an unbalanced de novo trans- location, t(X;21)(q28;ql 1), and diagnosed this child as having an incomplete form of Williams-Beuren syndrome (WBS).This was based on some symptoms specific to WBS, such as craniofacial dysmorphism, delayed psychomotor development, short stature, horseshoe kidneys, and a positive WBS score of + 4.09.2We do not agree with this diagnosis and would like to make some comments.
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Dean et al. (1993) conducted a letter in Williams-Beuren syndrome (n=1). The authors disagree with the previously reported diagnosis of an incomplete form of Williams-Beuren syndrome in a 27-month-old girl with an unbalanced de novo translocation.
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