Telvi L, Pinard J M, Ion R, Sinet P M, Nicole A, Feingold J, Dulac O, Pompidou A, Ponsot G
Service d'Histologie-Embryologie-Cytogénétique et Anatomie Pathologique, Hôpital Saint Vincent de Paul, Paris, France.
J Med Genet. 1992 Oct;29(10):747-9. doi: 10.1136/jmg.29.10.747.
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.
我们描述了一名患有智力迟钝及一些威廉斯-贝伦综合征表型特征的女婴。染色体分析显示为t(X;21)(q28;q11)。本文讨论了该综合征的诊断、X染色体失活以及易位断点在发病机制中可能发挥的作用。
