Ocular Findings in a Patient With 13-15 Trisomy
- 1 September 1963
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Ophthalmology (1950)
- Vol. 70 (3) , 372-375
- https://doi.org/10.1001/archopht.1963.00960050374018
Abstract
This paper describes the clinical and pathologic findings in the eyes of a patient with 13-15 trisomy. These findings are compared with those previously reported with this syndrome. Fourteen patients have been described in the literature.1-14 Twelve1-11 showed ocular anomalies, but the findings were described in adequate detail in only ten.1-9 Although the incidence of ocular defects is high, apparently none is sufficiently consistent to be characteristic. The trisomy 13-15 syndrome results from the presence of an extra autosomal chromosome of the 13-15, or D group.15,16 Some or all of the following congenital anomalies are present. These are mental retardation, deafness, heart defects, hemangiomata, cleft lip, cleft palate, motor seizures, low-set ears, polydactyly, horizontal palmer creases, and ocular defects. Two other autosomal trisomies, which have been recognized, are the 17-18 trisomy and the 21 trisomy (mongolism). Each has its own rather characteristic associated clinical syndrome. OcularKeywords
This publication has 3 references indexed in Scilit:
- Mongolism in Three Siblings with 46 ChromosomesNew England Journal of Medicine, 1962
- D TRISOMY SYNDROME AND XO GONADAL DYSGENESIS IN 2 SISTERS1961
- THE IDENTIFICATION OF INDIVIDUAL CHROMOSOMES, ESPECIALLY IN MAN1960