De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome.
case_report · Level V
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- Record sourced from PubMed, PMID 1433240.
- Also identified by PMC identifier 1016139.
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Abstract
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.
Medical subject headings
- Abnormalities, Multiple
- Chromosomes, Human, Pair 21
- Face
- Intellectual Disability
- Translocation, Genetic
- X Chromosome