title: A family with X-chromosomal recessive congenital cataract, microphthalmia, a peculiar form of the ear and dental anomalies.
abstract: An investigation has been made in a family with X-chromosomal recessive congenital cataract, microphthalmia, a peculiar form of the ear, and dental anomalies. The carrier females show only slight symptoms. They all have lens opacities, and most of them show more symptoms. For genetic counseling it is of utmost importance to examine all family members and to re-examine the females from time to time for early lens opacificaiton, which is the most constant finding. In literature families have been described with similar clinical symptoms only a few times. We have been trying to demonstrate a linkage with the Xga locus, which might enable us to locate the mutant gene on the X-chromosome and to exclude with more certainty the carrier status. The results of this blood group specification were not informative. In future we hope to be able to demonstrate a linkage with other markers located on the X-chromosome.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002386:Cataract / Q000151:congenital / Q000235:genetics*; D002648:Child; D004431:Ear, External / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D008850:Microphthalmos / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D012730:Sex Chromosomes; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics*; D014960:X Chromosome