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Unbalanced translocation (15;17)(q13;p13.3) with apparent Prader-Willi syndrome but without Miller-Dieker syndrome

✍ Scribed by Elder, F. F. B. ;Nichols, M. M. ;Hood, O. J. ;Harrison, W. R. ;Opitz, John M. ;Reynolds, James F.

Publisher
John Wiley and Sons
Year
1985
Tongue
English
Weight
355 KB
Volume
20
Category
Article
ISSN
0148-7299

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✦ Synopsis

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 manifestations of the Prader-Willi syndrome in infancy but none of the Miller-Dieker syndrome. We propose that essentially no loss of 17p material has occurred and confirm previous reports that the critical region for the production of the Miller-Dieker phenotype is located subterminally in the 17~13.3 region.

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✍ S. L. VAN ZELDEREN-BHOLA; E. J. BRESLAU-SIDERIUS; G. C. BEVERSTOCK; I. STOLTE-DI πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 415 KB πŸ‘ 3 views

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