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  • Title: Miller-Dieker syndrome due to maternal cryptic translocation t(10;17) (q26.3;p13.3).
    Author: Masuno M, Imaizumi K, Nakamura M, Matsui K, Goto A, Kuroki Y.
    Journal: Am J Med Genet; 1995 Dec 04; 59(4):441-3. PubMed ID: 8585563.
    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.
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