Severe congenital ocular anomalies including microphthalmos, anophthalmos, and retinal dysplasia13,23,30-35,45 have long been known to have association with other developmental abnormalities. The clinical pattern of what was possibly 13-15 trisomy was first described by Thomas Bartholin in 165735,36 as a "monster without eyes." There are many cases which may be presumed to have represented this syndrome before 196021 when Patau et al established the chromosomal basis for it.Following the work of Lejeune et al in 1959,37 the systematic counting of human chromosomes led to the establishment of three specific autosomal trisomy syndromes with clinical-cytogenetic correlation: 13-15 (Denver38 system of nomenclature), also referred to as D,39 or D1,7 or Patau's syndrome; 17-18, or E trisomy, or Edwards syndrome; and 21 or G trisomy (mongolism or Down's syndrome). These trisomy syndromes are recognized clinically by a characteristic array of congenital deformities in
GINSBERG J, PERRIN EV. Ocular Manifestations of 13-15 Trisomy: Report of a Case With Clinical, Cytogenetic, and Pathologic Findings. Arch Ophthalmol. 1965;74(4):487–495. doi:10.1001/archopht.1965.00970040489010
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: