[Corneal distrophy of Groenouw type I and chromosomic delection (22p-) in one family (author's transl)].
Authors report a family in which three members presented a type I Corneal Distrophy of Groenouw; two of them also presented a delection of short arms of a 22 chromosome, while the third presented the delection but not the corneal distrophy. The absence of relationship between the corneal distrophy and the 22 delection in this family proves that the latter is a familial marker, not being the cause of the disease.
D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D002904:Chromosomes, Human, 21-22 and Y; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D010375:Pedigree
D005819:Genetic Markers
Distrofia corneal Groenouw tipo I y alteración cromosómica estructural (22p-) en una familia.