De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome.
نویسندگان
چکیده
We describe a female infant with mental retardation and some of the phenotypic features of Williams-Beuren syndrome. Chromosome analysis showed t(X;21)(q28;q11). Diagnosis, inactivation of the X chromosome, and possible involvement of the translocation breakpoints in the pathogenesis of this syndrome are discussed.
منابع مشابه
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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عنوان ژورنال:
- Journal of medical genetics
دوره 29 10 شماره
صفحات -
تاریخ انتشار 1992