title: Miller-Dieker syndrome due to maternal cryptic translocation t(10;17) (q26.3;p13.3)
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.
authors.affiliation: Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Masuno
authors.forename: K
authors.initials: K
authors.lastname: Imaizumi
authors.forename: M
authors.initials: M
authors.lastname: Nakamura
authors.forename: K
authors.initials: K
authors.lastname: Matsui
authors.forename: A
authors.initials: A
authors.lastname: Goto
authors.forename: Y
authors.initials: Y
authors.lastname: Kuroki
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D010375:Pedigree; D014178:Translocation, Genetic