Williams syndrome and chromosome 18.

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Chromosome abnormalities and Williams-Beuren syndrome.

Telvi et al' recently reported on a 27 month old girl with an unbalanced de novo translocation, 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 + 4.09.2 We do ...

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Williams syndrome...people with intact language, intact face processing and very low IQ, right? Wrong! That’s the propagated myth because, if it were true, it would be such an elegant example of innate modularity at the genetic, brain and cognitive levels. But numerous labs across the world have shown that although vocabulary levels can be surprisingly high in Williams syndrome children, they a...

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ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 1992

ISSN: 1468-6244

DOI: 10.1136/jmg.29.9.679-b