We studied after death a 3-month-old girl whose karyotype was 4S,XX,-lS, -17, +der(17),t(15; 17)(q13;p13.3) and thus combines abnormalities of chromosome 15 associated with the Prader-Willi syndrome and of chromosome 17 associated with the Miller-Dieker syndrome. This infant had several manifestatio
β¦ LIBER β¦
Miller-Dieker syndrome due to maternal cryptic translocation t(10;17)(q26.3;p13.3)
β Scribed by Masuno, Mitsuo ;Imaizumi, Kiyoshi ;Nakamura, Mihoko ;Matsui, Kiyoshi ;Goto, Akiko ;Kuroki, Yoshikazu
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 356 KB
- Volume
- 59
- Category
- Article
- ISSN
- 0148-7299
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