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February 1970

Bilateral Colobomas of Iris and ChoroidAssociation With Partial Deletion of a Chromosome of Group D

Author Affiliations

Zurich, Switzerland
From the Institute of Anatomy, University of Zurich, Switzerland.

Arch Ophthalmol. 1970;83(2):141-144. doi:10.1001/archopht.1970.00990030143004

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.

Wang, H.C., et al:  Ring Chromosomes in Human Beings , Nature 195:733-734 ( (Aug 18) ) 1962.Article
Turner, B., et al:  A Self Perpetuating Ring Chromosome , Med J Austr 49( (pt 2) ):56-58 (July 14) 1962.
Lele, K.P.; Penrose, L.S.; and Stallard, H.B.:  Chromosome Deletion in a Case of Retinoblastoma , Ann Hum Genet 27:171-174 ( (April) ) 1963.Article
Bain, A.D., and Gauld, I.K.:  Multiple Congenital Abnormalities Associated With Ring Chromosome , Lancet 2:304-305 ( (Aug 10) ) 1963.Article
McIntyre, N.M.; Hempel, J.M.; and Staples, W.I.: A Persistent D-Group Ring Chromosome in a Human Male With Congenital Anomalies , Mamm Cytogen Conf, Vergennes, Vermont, Sept 1963.
Mercer, R.D., and Darakjian, G.:  Apparent Translocation Between Chromosomes 2 and an Acrocentric in Group 13-15 , Lancet 2:784-785 ( (Oct 13) ) 1962.Article
Wallace, C., and Anderson, I.F.:  Group B/D Translocation Chromosome in a Case With Stigmata of the D-Trisomy , S Afr Med J , 352-355, 1964.
Adams, M.S.:  Palm-Prints and a Ring D Chromosome , Lancet 2:494 ( (Sept 4) ) 1965.Article
Reisman, L.E.; Darwell, A.; and Murphy, J.W.:  Abnormality With Ring Chromosome , Lancet 2:445 ( (Aug 28) ) 1965.Article
van Kempen, C.:  A Case of Retinoblastoma, Combined With Severe Mental Retardation and a Few Other Congenital Anomalies, Associated With Complex Aberrations of the Karyotype , Maandschr Kindergeneesk 34:92-95 ( (March) ) 1966.
Pfeiffer, R.A.: The Karyotype and Phenotype of Autosomal Aberration in Man , Stuttgart, Germany: Gustave Fischer, 1968, pp 87-88.
Cagianut, B.:  Eye Manifestations in Chromosomal Disorders , Ophthalmologica 155:148-166 ( (Feb) ) 1968.Article