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Congenital glaucoma resulting from a chromosomal translocation
Author(s) -
Gustavson KarlHenrik,
Berggren Lennart,
Svedberg Björn,
Törnquist Per
Publication year - 1992
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.1992.tb04140.x
Subject(s) - chromosomal translocation , glaucoma , chromosome , genetics , karyotype , biology , medicine , ophthalmology , gene
. A boy with congenital glaucoma, mental retardation and dysmorphic features is described. Chromosome analyses revealed two different, apparently balanced translocations; between the long arms of chromosomes 2 and 10 as well as between the long arms of chromosomes 8 and 12; 46,XY t(2;10)(q33;q26)pat, t(8;12) (q24;q21). The healthy father of the patient had the same balanced translocation between the long arms of chromosomes 2 and 10; 46,XY, t(2;10)(q33;q26).