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Miller-Dieker syndrome due to maternal cryptic translocation t(10;17) (q26.3;p13.3)
M Masuno1, K Imaizumi, M Nakamura
1Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
American Journal of Medical Genetics
|December 4, 1995
Abstract:
We report on a 3-month-old girl with Miller-Dieker syndrome resulting from a maternal full-cryptic translocation t(10;17) (q26.3;p13.3) detectable only by using fluorescence in situ hybridization (FISH). Parental studies using FISH are crucial for genetic counselling in cases of Miller-Dieker syndrome with submicroscopic deletion at 17p13.3. In a family with a parental cryptic translocation and high recurrence risk, parental diagnosis using FISH is feasible.