[Partial trisomy 2p due to a familial translocation 2/6. Cytogenetic and clinical case with special reference to ophthalmologic changes].
A translocation 2/6 inherited for 3 generations is described. The propositus, carrier of a partial trisomy 2p, showed multiple morphological anomalies of which microphtalmus and persistance of primary vitreous body were of particular interest. Based on a comparison of this with seven other patients in the literature, the most characteristic clinical symptoms of partial trisomy 2p are concluded to be the following: abundant lanugo at birth, glabella prominence, anteverted nares, dermatoglyphic anomalies, and malformations of the eyes.
D000015:Abnormalities, Multiple; D002900:Chromosomes, Human, 1-3; D002906:Chromosomes, Human, 6-12 and X; D003582:Cytogenetics; D003878:Dermatoglyphics; D005124:Eye Abnormalities; D006197:Hair; D006801:Humans; D007223:Infant; D008297:Male; D008850:Microphthalmos / Q000150:complications*; D009666:Nose / Q000002:abnormalities; D011596:Psychomotor Disorders / Q000150:complications; D014178:Translocation, Genetic; D014314:Trisomy
Trisomie partielle 2p par translocation familiale 2/6. Observation cytogénétique et clinique avec prise en considération particulière des altérations ophtalmologiques.