Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2)
Document Type
Journal Article
Publication Date
11-26-1999
Journal
American Journal of Medical Genetics
Volume
87
Issue
3
DOI
10.1002/(SICI)1096-8628(19991126)87:3<201::AID-AJMG1>3.0.CO;2-H
Keywords
Anophthalmos; Balanced translocation 3q11p; Chromosome 3
Abstract
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;p11.2) in a baby with isolated anophthalmos. Both Chitayat et al. [1996] and Alvarez 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 anomalies 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.
APA Citation
Driggers, R., Macri, C., Greenwald, J., Carpenter, D., Avallone, J., Howard-Peebles, P., & Levin, S. (1999). Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2). American Journal of Medical Genetics, 87 (3). http://dx.doi.org/10.1002/(SICI)1096-8628(19991126)87:3<201::AID-AJMG1>3.0.CO;2-H