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

Primary anophthalmos is a heterogeneous condition. In its nonsyndromal form , it is usually considered an autosomal recessive trait. However, other cau ses such as chromosomal abnormalities and prenatal insults need to be consi dered. We report on a unique reciprocal translocation 46,XX,t(3;11)(927;p11 .2) in a baby with isolated anophthalmos. Both Chitayat et al, [1996] and A lvarez Arratia et al, [1984] have reported on cases of terminal deletion of the long arm of chromosome 3, In each case the child had multiple anomalie s including microphthalmia or anophthalmia, Because our patient appears to have no other anomalies, this break point may indicate that a genetic locus for eye formation exists at chromosome site 3q27. Am. J, Med. Genet, 87:20 1-202, 1999. Published 1999 Wiley-Liss, Inc.dagger