Anopthalmia and Other Anomalies Associated with a Ring Chromosome No. 17-18
1975 Volume 40 Issue 1 Pages 135-140
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1975 Volume 40 Issue 1 Pages 135-140
A white male infant was born at 40 week's gestation with multiple malformations and one eye missing. At two weeks of age, he developed a mixed urinary tract infection. At four weeks of age, bilateral peribronchiolar pneumonia developed. The course was marked by vomiting and progressive diarrhea, leading to death at six weeks (42 days) of age. Postmortem examination revealed the absence of the left optic nerve and eyeball with shallow left orbit, among other abnormalities. Sex chromatin was negative. All 37 metaphases analysed on leucocyte cultures contain 45 normal chromosomes plus a typical ring chromosome, which is present in place of one of the E group chromosomes, either no. 17 or no. 18. Judging morphologically, the ring chromosome probably arose from a chromosome no. 18.
