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

✍ 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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Unbalanced translocation (15;17)(q13;p13
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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

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We present here a case report of a fetus with a kidney anomaly and dilated occipital horns, detected initially by echoscopy at 29 weeks' amenorrhoea. After 31 weeks of gestation, the proband was born with clinical symptoms of Miller-Dieker syndrome. This was subsequently confirmed by fluorescence in