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Case Reports
. 1995 Dec 4;59(4):441-3.
doi: 10.1002/ajmg.1320590409.

Miller-Dieker syndrome due to maternal cryptic translocation t(10;17) (q26.3;p13.3)

M Masuno  1 , K Imaizumi, M Nakamura, K Matsui, A Goto, Y Kuroki
Affiliations
Case Reports

Miller-Dieker syndrome due to maternal cryptic translocation t(10;17) (q26.3;p13.3)

M Masuno et al. Am J Med Genet. .

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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