A newborn child of healthy parents presented at birth with bilateral colobomas of iris and choroid associated with multiple deformities. The karyotype showed a terminal deletion of the long arms of a group-D chromosome, probably 14 or 15. The karyotypes of both parents were normal. At autopsy the following abnormalities were noted: craniofacial dysplasia, agenesis of corpus callosum, cleft palate, thymus hypoplasia, incomplete lobulation of the lungs, aplasia of gallbladder and left kidney, lack of the right umbilical artery, prevascular positioning of the pars inferior to the duodenum, incomplete rotation of the gut, and clinodactyly. Both eyes were normal in size. Histologically, the colobomas were of the classical type with thinned and undifferentiated retinas and choroids.
Cagianut B, Theiler K. Bilateral Colobomas of Iris and Choroid: Association With Partial Deletion of a Chromosome of Group D. Arch Ophthalmol. 1970;83(2):141–144. doi:10.1001/archopht.1970.00990030143004
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