Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation

Isolated bilateral anophthalmia in a gir

Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2)

✍ Driggers, Rita W.; Macri, Charles J.; Greenwald, Jeffrey; Carpenter, David; Aval 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 3 views

Primary anophthalmos is a heterogeneous condition. In its nonsyndromal form, it is usually considered an autosomal recessive trait. However, other causes such as chromosomal abnormalities and prenatal insults need to be considered. We report on a unique reciprocal translocation 46,XX,t(3;11)(q27;p11