Publication: Chromosomes in coloboma and anal atresia
Chromosomes in coloboma and anal atresia
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Schachenmann, G., Schmid, W., Fraccaro, M., Mannini, A., Tiepolo, L., Perona, G. P., & Sartori, E. (1965). Chromosomes in coloboma and anal atresia. The Lancet, 286, 290. https://doi.org/10.1016/s0140-6736(65)92415-3
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SIR, -The association of coloboma with anal atresia was described in 1878 by Haab.1 We have been studying the chromosomes of 3 cases of this syndrome, independently ascertained in Zurich (cases 1 and 2) and Pavia (case 3). The phenotypic similarity of the 3 patients and the consistent finding in all of an abnormal extra chromosome of identical appearance indicate that this could be a new "chromosomal" disease. The clinical data are given below.
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Schachenmann, G., Schmid, W., Fraccaro, M., Mannini, A., Tiepolo, L., Perona, G. P., & Sartori, E. (1965). Chromosomes in coloboma and anal atresia. The Lancet, 286, 290. https://doi.org/10.1016/s0140-6736(65)92415-3